Explore the vast range of titles available.

Background and objectives Motor Neuron Diseases (MND) are rare diseases but have a high impact on affected individuals and society. This study aims to perform an economic evaluation of MND in Germany. Methods Primary patient-reported data were collected including individual impairment, the use of medical and non-medical resources, and self-rated Health-Related Quality of Life (HRQoL). Annual socio-economic costs per year as well as Quality-Adjusted Life Years (QALYs) were calculated. Results 404 patients with a diagnosis of Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy (SMA) or Hereditary Spastic Paraplegia (HSP) were enrolled. Total annual costs per patient were estimated at 83,060€ in ALS, 206,856€ in SMA and 27,074€ in HSP. The main cost drivers were informal care (all MND) and disease-modifying treatments (SMA). Self-reported HRQoL was best in patients with HSP (mean EuroQoL Five Dimension Five Level (EQ-5D-5L) index value 0.67) and lowest in SMA patients (mean EQ-5D-5L index value 0.39). QALYs for patients with ALS were estimated to be 1.89 QALYs, 23.08 for patients with HSP and 14.97 for patients with SMA, respectively. Cost-utilities were estimated as follows: 138,960€/QALY for ALS, 525,033€/QALY for SMA, and 49,573€/QALY for HSP. The main predictors of the high cost of illness and low HRQoL were disease progression and loss of individual autonomy. Conclusion As loss of individual autonomy was the main cost predictor, therapeutic and supportive measures to maintain this autonomy may contribute to reducing high personal burden and also long-term costs, e.g., care dependency and absenteeism from work.

Introduction Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain. This study aims to identify the complex, often hidden, financial impacts experienced by individuals with NMDs and their families. Methods We conducted a qualitative study involving four virtual semi‐structured focus groups, with 58 participants (76% patients and 24% caregivers). Participants were recruited from Muscular Dystrophy Canada's database and had previously completed the national BIND COI survey. Participants shared firsthand accounts of direct non‐medical costs, psychosocial burdens and opportunity costs, highlighting hidden expenses, substantial out‐of‐pocket costs, and the broader financial and emotional toll on families. Thematic analysis of the transcripts of the discussions was performed using an inductive approach, guided by a rare‐disease‐specific socio‐economic burden framework. Results Four key themes emerged: informational costs (lack of awareness/support for navigating financial resources), time‐related costs (time spent advocating for supports), opportunity costs (loss of income or career advancement), and costs to independence (emotional toll and out‐of‐pocket costs for assistive devices and home modifications). Conclusion This study identified four interconnected categories of hidden costs for people with NMDs and their families: informational burdens, administrative and advocacy demands, employment‐related opportunity costs, and reduced independence tied to out‐of‐pocket spending on equipment and home modifications. These findings reveal how financial and emotional pressures accumulate beyond what traditional COI estimates capture. Greater attention to these costs is critical for fostering equitable and sustainable healthcare systems. Patient or Public Contribution This study was designed and conducted in partnership with individuals living with NMDs and caregivers. Three trained patient and family research partners contributed to the development of the focus group guide and interpretation of results. All participants contributed their lived experiences to inform and validate key findings. Their input was central to the design, analysis and preparation of this manuscript, ensuring alignment with community priorities.

The novel human coronavirus disease (COVID-19) is the major pandemic throughout the globe and its occurrence is due to the presence of severe acute respiratory syndrome coronavirus (SARS-CoV2). That began from Wuhan, Hubei province of China in late 2019 and afterward drastically spread worldwide. It effects around 213 countries and territories around the globe and have reported a total of 8,128,490 confirmed cases of COVID-19. As an unprecedented global pandemic it sweeps the planet and affects each and every human being either physically, mentally or economically. The most common symptoms of COVID-19 are pyrexia, tiredness, and dry cough but in some cases it is asymptomatic. It can be diagnosed by a health care provider based on symptoms and confirmed through laboratory tests. Till date there is not even a single drug or vaccine that can be used for the effective treatment for this disease. The international community is to introduce a global synchronized strength to prevent the outbreak that needs a strong public health response, high level political commitment and sufficient funding. The aim of this review article is to summarise the recent state of awareness, epidemiology and social impact on surrounding due to outbreak of COVID-19 pandemic.

[...]date there is not even a single drug or vaccine that can be used for the effective treatment for this disease. The lung epithelial cells are the primary target of the virus because host cell is the first step of viral infection followed by the fusion with the cell membrane hence it has been reported that human to human transmission of SARS-CoV2 occurs by the binding between the receptor-binding domains of virus spikes with the cell, which has been identified as angiotensin-converting enzyme-2 (ACE2) receptor. The sample should be stored in laboratory for the amplification of the genetic material extracted from the mucus or saliva sample is through a reverse transcription polymerase chain reaction (RT-PCR), which involves the synthesis of a double-stranded (ds) DNA molecule from an RNA. The probes are taken on the initial gene sequence released by the Shanghai Public Health Clinical Centre & School of Public Health, Fudan University, Shanghai, China on Virological.org, and subsequent confirmatory evaluation by other labs. If the test result is positive, it is recommended that the test is repeated for verification [27].

Summary Frailty fractures place a significant socioeconomic burden on the health care system. The Italian Society of Orthopaedics and Traumatology (SIOT) is proceeding to fracture liaison service (FLS) model accreditation in several Italian Fracture Units (FUs), which provides a multidisciplinary approach for the management of the fragility fracture patient. Introduction Osteoporosis and the resulting fragility fractures, particularly femoral fractures, place significant socioeconomic burdens on the health care system globally. In addition, there is a general lack of awareness of osteoporosis, resulting in underestimation of the associated risks and suboptimal treatment of the disease. The fracture liaison service (FLS) represents an exemplary model of post-fracture care that involves a multidisciplinary approach to the frail patient through the collaboration of multiple specialists. The purpose of this article is to highlight the path undertaken by the Italian Society of Orthopaedics and Traumatology (SIOT) for the purpose of certification of numerous FLS centers throughout Italy. Methods SIOT is proceeding with international FLS accreditation in several Italian Fracture Units (FUs), following the creation of a model that provides specific operational and procedural steps for the management of fragility fractures throughout the country. FUs that decide to join the project and implement this model within their facility are then audited by an ACCREDIA-accredited medical certification body. Results The drafted FLS model, thanks to the active involvement of a panel of experts appointed by SIOT, outlines a reference operational model that describes a fluid and articulated process that identifies the procedure of identification, description of diagnostic framing, and subsequent initiation of appropriate secondary prevention programs for fractures of individuals who have presented with a recent fragility fracture of the femur. Conclusion Accreditation of this prevention model will enable many facilities to take advantage of this dedicated diagnostic-therapeutic pathway for the purpose of fracture prevention and reduction of associated health and social costs.

Introduction Neuromuscular diseases (NMDs) are rare multisystem, genetic or acquired disorders causing weakness and/or sensory loss. It is essential for governments, insurance providers, and broader society to have a better understanding of the burden of illness of NMDs. Our goal is to assess the social and economic burden of Canadians living with NMDs, encompassing schooling and education achievement, health-related quality-of-life, and labour force participation and productivity. Methods and analysis We will conduct a national, cross-sectional survey of individuals living with a NMD and their caregivers who are members of Muscular Dystrophy Canada and/or are patients within our national network of neuromuscular clinics. Surveys can be completed online or via telephone. The specific sub-sections of the questionnaire will differ based on respondent’s profile, whether they are 1) a minor living with a NMD, 2) an adult living with a NMD, 3) an adult who is a caregiver for someone living with a NMD, or 4) an adult who both lives with a NMD and is a caregiver for someone with a NMD. We will use descriptive statistics to describe distributions and ranges of the social and economic measures. Pearson correlations for continuous data and Spearman rho for rank data will be used to detect the strength of association of socio-demographic factors, disease characteristics, and social and economic impacts of NMDs. Ethics and dissemination The study protocol has been approved by the Ottawa Health Science Network Research Ethics Board (Protocol ID # 20210601-01H). This study will provide the overall impact of NMD on costs and health-related quality of life, disseminated via a series of manuscripts which will include both between- and within-NMD/NMD subtype comparisons. The data obtained will guide governmental policy development and inform patient organisation programs to deliver more effective supports to individuals and families affected by NMDs.

The mitochondrial respiratory chain is the main site of reactive oxygen species (ROS) production in the cell. Although mitochondria possess a powerful antioxidant system, an excess of ROS cannot be completely neutralized and cumulative oxidative damage may lead to decreasing mitochondrial efficiency in energy production, as well as an increasing ROS excess, which is known to cause a critical imbalance in antioxidant/oxidant mechanisms and a “vicious circle” in mitochondrial injury. Due to insufficient energy production, chronic exposure to ROS overproduction consequently leads to the oxidative damage of life-important biomolecules, including nucleic acids, proteins, lipids, and amino acids, among others. Different forms of mitochondrial dysfunction (mitochondriopathies) may affect the brain, heart, peripheral nervous and endocrine systems, eyes, ears, gut, and kidney, among other organs. Consequently, mitochondriopathies have been proposed as an attractive diagnostic target to be investigated in any patient with unexplained progressive multisystem disorder. This review article highlights the pathomechanisms of mitochondriopathies, details advanced analytical tools, and suggests predictive approaches, targeted prevention and personalization of medical services as instrumental for the overall management of mitochondriopathy-related cascading pathologies.

Background Surgical resection is the major way to cure pancreatic ductal adenocarcinoma (PDAC). However, this operation is complex, and the peri-operative risk is high, making patients more likely to be admitted to the intensive care unit (ICU). Therefore, establishing a risk model that predicts admission to ICU is meaningful in preventing patients from post-operation deterioration and potentially reducing socio-economic burden. Methods We retrospectively collected 120 clinical features from 1242 PDAC patients, including demographic data, pre-operative and intra-operative blood tests, in-hospital duration, and ICU status. Machine learning pipelines, including Supporting Vector Machine (SVM), Logistic Regression, and Lasso Regression, were employed to choose an optimal model in predicting ICU admission. Ordinary least-squares regression (OLS) and Lasso Regression were adopted in the correlation analysis of post-operative bleeding, total in-hospital duration, and discharge costs. Results SVM model achieved higher performance than the other two models, resulted in an AU-ROC of 0.80. The features, such as age, duration of operation, monocyte count, and intra-operative partial arterial pressure of oxygen (PaO 2 ), are risk factors in the ICU admission. The protective factors include RBC count, analgesic pump dexmedetomidine (DEX), and intra-operative maintenance of DEX. Basophil percentage, duration of the operation, and total infusion volume were risk variables for staying in ICU. The bilirubin, CA125, and pre-operative albumin were associated with the post-operative bleeding volume. The operation duration was the most important factor for discharge costs, while pre-lymphocyte percentage and the absolute count are responsible for less cost. Conclusions We observed that several new indicators such as DEX, monocyte count, basophil percentage, and intra-operative PaO 2 showed a good predictive effect on the possibility of admission to ICU and duration of stay in ICU. This work provided an essential reference for indication in advance to PDAC operation.

Excessive daytime sleepiness (EDS) and insomnia (IN) complaints represent the most common sleep/wake disorders. Currently, the specific needs of these patients and their relatives, as well as the overall socio-economic burden of IN and EDS remains widely unexplored. This pilot study to be carried out in Switzerland is a retro- and prospective, national, one-center cohort observational study for the systematic evaluation of the burden of EDS and IN and its evolution 12 months after the first assessment. Patient recruitment will be organized through 7–8 primary care providers (primary/general care practitioners and pharmacies). Primary outcomes are the prevalence of EDS/IN in the primary care setting and the association between EDS/IN with health-related quality of life (QOL) as assessed with the established instruments. Secondary outcomes are the association between EDS/IN with the presence of comorbidities, number of injuries/accidents, and number of sick/leave days for the subgroup of working subjects. Calculation of direct per-patient costs will be undertaken to analyze the economic implications of sleep/wake disorders, providing valuable insights into the financial burden experienced by affected individuals within the healthcare system. This research will provide information on the feasibility of such a study and inform on aspects of the QOL most associated with EDS/IN. Based on this pilot project, a European multicenter study on the burden of sleep/wake disorders will be conducted by the European Academy of Neurology.

The coronavirus disease 2019 (COVID-19) pandemic has continued for more than 3 years, placing a huge burden on society worldwide. Although the World Health Organization (WHO) has declared an end to COVID-19 as a Public Health Emergency of International Concern (PHEIC), it is still considered a global threat. Previously, there has been a long debate as to whether the COVID-19 emergency will eventually end or transform into a more common infectious disease from a PHEIC, and how should countries respond to similar pandemics in the future more time-efficiently and cost-effectively. We reviewed the past, middle and current situation of COVID-19 based on bibliometric analysis and epidemiological data. Thereby, the necessity is indicated to change the paradigm from reactive healthcare services to predictive, preventive and personalised medicine (PPPM) approach, in order to effectively protect populations against COVID-19 and any future pandemics. Corresponding measures are detailed in the article including the involvement of multi-professional expertise, application of artificial intelligence, rapid diagnostics and patient stratification, and effective protection, amongst other to be considered by advanced health policy.