scholarly journals Examining Trans-Provincial Diagnosis of Rare Diseases in China: The Importance of Healthcare Resource Distribution and Patient Mobility

2020 ◽  
Vol 12 (13) ◽  
pp. 5444 ◽  
Author(s):  
Xiang Yan ◽  
Dong Dong ◽  
Shenjing He ◽  
Chris Webster
Keyword(s):  
Rare Disease ◽  
Geographical Distribution ◽  
Rare Diseases ◽  
Accurate Diagnosis ◽  
Long Distance ◽  
High Quality ◽  
Healthcare Resources ◽  
Quality Healthcare ◽  
Child Patient ◽  
The Impact

(1) Background: Rare disease patients in China usually have to travel a long distance, typically across provinces, for an accurate diagnosis due to the uneven distribution of healthcare resources. This study investigated the impact factors of their trans-provincial diagnosis. (2) Methods: An analysis was made of 1531 cases (1032 adults and 499 children) garnered from the 2018 China Rare Disease Survey, representing a large patient community inflicted with 75 rare diseases from across 31 Chinese provinces. Logistic regression models were used for separate analysis of adult and child patient groups. (3) Results: Nearly half (47.2%) of patients obtained their accurate diagnosis outside their home provinces. The uneven geographical distribution of high-quality healthcare had a significant impact on variation in trans-province diagnosis. Adult patients with lower family income, rural hukou and severer physical disability were disadvantaged in accessing trans-provincial diagnosis. Families with a child patient tended to pour resources into obtaining the trans-provincial diagnosis. The rarity of the disease had only a minimal effect on healthcare utilization across the provinces. (4) Conclusions: In addition to medical care, more attention should be paid to the socioeconomic factors that prevent the timely diagnosis of a rare disease, especially the uneven geographical distribution of high-quality healthcare resources, the financial burden on the family and the differences between adult and child patients.

scholarly journals Determining How Far an Adult Rare Disease Patient Needs to Travel for a Definitive Diagnosis: A Cross-Sectional Examination of the 2018 National Rare Disease Survey in China

2020 ◽  
Vol 17 (5) ◽  
pp. 1757
Author(s):  
Xiang Yan ◽  
Shenjing He ◽  
Dong Dong
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Structural Equation Models ◽  
Disease Patient ◽  
Definitive Diagnosis ◽  
Impact Factors ◽  
Diagnosis Delay ◽  
High Quality ◽  
Quality Healthcare ◽  
Disease Survey

Background: To investigate the multidimensional difficulties in accessing a definitive diagnosis of adult rare diseases and the associated impact factors in China. Methods: A total of 1010 adult rare disease patients from the 2018 China Rare Disease Survey were used for analysis. The Structural Equation Models examined the interrelationships among five accessibility indicators and the effects of three sets of impact factors. Results: (1) Accessibility: 72.97% of patients were misdiagnosed; they waited an average of 4.30 years and visited 2.97 hospitals before the definitive diagnosis; 67.13% were diagnosed outside the home city and traveled an average of 562 km. (2) Interrelationships among accessibility indicators: the experience of misdiagnosis significantly increased diagnosis delay and the number of hospitals visited, but had no significant effect on healthcare utilization across cities. (3) Impact factors: the rarity of disease only increased the number of hospitals visited and residence–hospital distance; high-quality healthcare distribution was key in determining accessibility; the older, disabled, poor, and less-educated individuals, and those in Central/West China were disadvantaged. Conclusion: The socioeconomic dimension of difficulties in accessing a definitive diagnosis of rare diseases should be attended, especially the uneven distribution of high-quality healthcare and those disadvantaged patients. More systematic rare disease surveys are needed in the future.

Impact of genomics on biopharmaceutical industry: rare diseases as disruptive innovation

2019 ◽  
Vol 11 (2) ◽  
pp. 241-260 ◽  
Author(s):  
Mark J. Ahn ◽  
Amir Shaygan ◽  
Charles Weber
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Dynamic Capabilities ◽  
Disruptive Innovation ◽  
Increasing Returns ◽  
Biopharmaceutical Industry ◽  
Content Type ◽  
Enterprise Value ◽  
The Impact ◽  
Value Growth

Purpose Using a dynamic capabilities lens, this paper aims to study the impact of genomics generally and gene therapy specifically on the rare disease sector of the biopharmaceutical industry. Design/methodology/approach In this study, 24 genomics-based, rare disease-focused biopharma companies were studied and several variables were tested with respect to enterprise value growth. The companies were analyzed as a group of rare disease firms, as well as by size. Findings The authors found that number of employees, revenues, number of pipeline and marketed products and retained earnings are strongly correlated (in that order) with enterprise value in rare disease focused biopharma companies. These correlations seem to be weaker as a company’s market capitalization size decreases, indicating that there tends to be increasing returns to scale. Research limitations/implications This study found that increasing rates of cumulative returns to enterprise value growth depends on accumulating knowledge-based employees and expanding product portfolios of disruptive genomics-based technologies for treating rare diseases. Aggregating skilled and innovative employees (especially in bigger companies) can be seen as a cumulative bolstering factor in leveraging dynamic capabilities which can be recognized, understood and transformed into commercial success (i.e. increasing returns in enterprise value). In other words, technology managers’ job is to manage not only the financial aspects of the technology but also human resources, asset configuration and strategic alliances efficiently toward faster and better innovation. Strong dynamic capabilities can be formed with the accumulation of experience, articulation and codification of knowledge and an adaptive ability to change the way they solve problems as their environment transforms. Originality/value This is the first study to demonstrate and measure a relationship between dynamic capabilities and enterprise value in genomics-based rare disease firms. Further, this study highlights the importance of building the capability and capacity to absorb expertise and accumulate knowledge for new product innovations and sustainable competitive advantage in industries characterized by disruptive innovation.

scholarly journals PRIORITY NEEDS REFERRED BY FAMILIES OF RARE DISEASE PATIENTS

2016 ◽  
Vol 25 (4) ◽  
Author(s):  
Geisa dos Santos Luz ◽  
Mara Regina Santos da Silva ◽  
Francine DeMontigny
Keyword(s):  
Rare Disease ◽  
Social Services ◽  
Rare Diseases ◽  
Healthcare Services ◽  
Strong Impact ◽  
Structured Interviews ◽  
The Family ◽  
Priority Needs ◽  
The Impact ◽  
The Relationship

ABSTRACT Rare diseases cause strong impact in families and generate needs beyond those associated with the most frequent diseases. Some of these needs are the inclusion of new responsibilities and the relationship with the healthcare and social services. This study is aimed at identifying the priority needs of families of rare disease patients as perceived from the time of diagnosis. This is a qualitative study conducted with 16 relatives of rare disease patients who live in the state of Rio Grande do Sul. Data were collected from November 2012 to March 2013, through semi-structured interviews and submitted to content analysis, based on the bioecological system of human development. The results indicated the following priority needs: access to social and healthcare services; knowledge about rare diseases; social support structures; acceptance and social integration; preservation of personal and family life. It was concluded that (re)organizing services and meeting the specific needs are preconditions to qualify nursing care and soften the impact the rare disease has on the family.

EXPLORING VALUES OF HEALTH TECHNOLOGY ASSESSMENT AGENCIES USING REFLECTIVE MULTICRITERIA AND RARE DISEASE CASE

2017 ◽  
Vol 33 (4) ◽  
pp. 504-520 ◽  
Author(s):  
Mireille M. Goetghebeur ◽  
Monika Wagner ◽  
Dima Samaha ◽  
William O'Neil ◽  
Danielle Badgley ◽  
...  
Keyword(s):  
Health Technology Assessment ◽  
Rare Disease ◽  
Rare Diseases ◽  
Technology Assessment ◽  
Ethical Reasoning ◽  
Stakeholder Involvement ◽  
Health Technology ◽  
Trade Offs ◽  
Disease Case ◽  
The Impact

Objectives: Tackling ethical dilemmas faced by reimbursement decision makers requires deeper understanding of values on which health technology assessment (HTA) agencies are founded and how trade-offs are made. This was explored in this study including the case of rare disease.Methods: Representatives from eight HTA explored values on which institutions are founded using a narrative approach and reflective multicriteria (developed from EVIDEM, criteria derived from ethical imperatives of health care). Trade-offs between criteria and the impact of incorporating defined priorities (including for rare diseases) were explored through a quantitative values elicitation exercise.Results: Participants reported a diversity of substantive and procedural values with a common emphasis on scientific excellence, stakeholder involvement, independence, and transparency. Examining the ethical imperatives behind EVIDEM criteria was found to be useful to further explore substantive values. Most criteria were deemed to reflect institutions’ values, while 70 percent of the criteria were reported by at least half of participants to be considered formally by their institutions. The quantitative values elicitation highlighted the difficulty to balance imperatives of “alleviating or preventing patient suffering,” “serving the whole population equitably,” “upholding healthcare system sustainability,” and “making decisions informed by evidence and context” but may help share the ethical reasoning behind decisions. Incorporating “Priorities” (including for rare diseases) helped reveal trade-offs from other criteria and their underlying ethical imperatives.Conclusions: Reflective multicriteria are useful to explore substantive values of HTAs, reflect how these values and their ethical underpinnings can be operationalized into criteria, and explore the ethical reasoning at the heart of the healthcare debate.

scholarly journals Impact of single and combined rare diseases on adult inpatient outcomes: a retrospective, cross-sectional study of a large inpatient population

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Reka Maria Blazsik ◽  
Patrick Emanuel Beeler ◽  
Karol Tarcak ◽  
Marcus Cheetham ◽  
Viktor von Wyl ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Cross Sectional Study ◽  
Hospital Death ◽  
Sectional Study ◽  
Cross Sectional ◽  
Inpatient Outcomes ◽  
Increased Risk ◽  
Icd 10 ◽  
The Impact

Abstract Background Little is known about the impact of rare diseases on inpatient outcomes. Objective To compare outcomes of inpatients with 0, 1, or > 1 rare disease. A catalogue of 628 ICD-10 coded rare diseases was applied to count rare diseases. Design Retrospective, cross-sectional study. Subjects 165,908 inpatients, Swiss teaching hospital. Main measures Primary outcome: in-hospital mortality. Secondary outcomes: length of stay (LOS), intensive care unit (ICU) admissions, ICU LOS, and 30-day readmissions. Associations with single and combined rare diseases were analyzed by multivariable regression. Key results Patients with 1 rare disease were at increased risk of in-hospital death (odds ratio [OR]: 1.80; 95% confidence interval [CI]: 1.67, 1.95), combinations of rare diseases showed stronger associations (OR 2.78; 95% CI 2.39, 3.23). Females with 1 rare disease had an OR of 1.69 (95% CI 1.50, 1.91) for in-hospital death, an OR of 2.99 (95% CI 2.36, 3.79) if they had a combination of rare diseases. Males had an OR of 1.85 (95% CI 1.68, 2.04) and 2.61 (95% CI 2.15, 3.16), respectively. Rare diseases were associated with longer LOS (for 1 and > 1 rare diseases: increase by 28 and 49%), ICU admissions (for 1 and > 1: OR 1.64 [95% CI 1.57, 1.71] and 2.23 [95% CI 2.01, 2.48]), longer ICU LOS (for 1 and > 1 rare diseases: increase by 14 and 40%), and 30-day readmissions (for 1 and > 1: OR 1.57 [95% CI 1.47, 1.68] and 1.64 [95% CI 1.37, 1.96]). Conclusions Rare diseases are independently associated with worse inpatient outcomes. This might be the first study suggesting even stronger associations of combined rare diseases with in-hospital deaths, increased LOS, ICU admissions, increased ICU LOS, and 30-day readmissions.

Introduction to core principles in children’s nursing

2010 ◽  
Author(s):  
Imelda Coyne ◽  
Joan Livesley
Keyword(s):  
Clinical Skills ◽  
Quality Care ◽  
Well Being ◽  
High Quality ◽  
Quality Healthcare ◽  
High Quality Care ◽  
The Core ◽  
Nursing Services ◽  
The Impact ◽  
Health And Well Being

The aim of this chapter is to discuss the core principles in children’s nursing and the application of these principles in everyday practice for nurses working with children and families. These essential principles are fundamental in the delivery of high quality care and as such will be evident throughout this textbook. This chapter will explain these principles in the context of community and hospital care and illustrate how nurses can use this knowledge in their clinical practice. There is no doubt that clinical skills are an essential component of high quality healthcare, but they are on their own insufficient to ensure that the needs of children and their families are met. Clinical skills need to be embedded in children’s services that are child centred and clearly focused around the needs of children and their families; but how is this possible? To ensure high quality care for children in hospital and the community you need to incorporate the core principles of family centred care into your everyday nursing practice and interventions. It is essential to understand the principles of family centred care and the importance of partnership and negotiation in the delivery of clinical skills. Knowing where to begin can be difficult, but we think that you can start with the concept of attachment and loss. Understanding this in relation to children’s separation from their family and home will help you to understand the impact of hospitalization on children, particularly those younger than five years old. The adverse aspects of hospitalization have been a substantial driving force in delivering more nursing services to children at home. However, it is also important to remain aware of the ongoing impact of lifelong illness on children and their families and why it is essential to use effective communication skills, maintain safe environments, and incorporate play into your practice. Together with evidence-based clinical skills, these facets of practice will enable you to maintain and promote children’s and families’ health and well-being. Specific learning outcomes are as follows. At the end of this chapter you will: ● Understand the basic elements of attachment and loss theory.

scholarly journals Examining the Multi-Scalar Unevenness of High-Quality Healthcare Resources Distribution in China

2019 ◽  
Vol 16 (16) ◽  
pp. 2813 ◽  
Author(s):  
Meng Yu ◽  
Shenjing He ◽  
Dunxu Wu ◽  
Hengpeng Zhu ◽  
Chris Webster
Keyword(s):  
Multiple Scales ◽  
Policy Design ◽  
Economic Transformation ◽  
Evaluation Framework ◽  
Multiple Sources ◽  
High Quality ◽  
Healthcare Resources ◽  
Quality Healthcare ◽  
Resources Distribution ◽  
And Performance

Healthcare disparity is, to a large extent, ascribable to the uneven distribution of high-quality healthcare resources, which remains insufficiently examined, largely due to data unavailability. To overcome this barrier, we synthesized multiple sources of data, employed integrated methods and made a comprehensive analysis of government administrative structures and the socio-economic environment to build probably the most inclusive dataset of Chinese 3-A hospitals thus far. Calibrated on a sample of 379 hospitals rated by a reputable organization, we developed a realistic and viable evaluation framework for assessing hospital quality in China. We then calculated performance scores for 1246 3-A hospitals, which were aggregated and further analyzed at multiple scales (cities, provinces, regions, and economic zones) using general entropy indexes. This research shows that the fragmented governance and incoordination of “kuai” and “tiao” is rooted deeply in China’s legacy of centrally-planned systems, and has had a far-reaching yet partially contradictory influence over the contemporary distribution and performance of healthcare resources. Additionally, the unevenness in the distribution of healthcare resources is related closely to a city’s administrative rank and power. This study thus suggests that the policy design of healthcare systems should be coordinated with external socio-economic transformation in a sustainable manner.

scholarly journals Network analysis reveals rare disease signatures across multiple levels of biological organization

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Pisanu Buphamalai ◽  
Tomislav Kokotovic ◽  
Vanja Nagy ◽  
Jörg Menche
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Single Gene ◽  
Genetic Diseases ◽  
Physical Interaction ◽  
Biological Organization ◽  
Network Layers ◽  
Disease Module ◽  
Gene Defects ◽  
The Impact

AbstractRare genetic diseases are typically caused by a single gene defect. Despite this clear causal relationship between genotype and phenotype, identifying the pathobiological mechanisms at various levels of biological organization remains a practical and conceptual challenge. Here, we introduce a network approach for evaluating the impact of rare gene defects across biological scales. We construct a multiplex network consisting of over 20 million gene relationships that are organized into 46 network layers spanning six major biological scales between genotype and phenotype. A comprehensive analysis of 3,771 rare diseases reveals distinct phenotypic modules within individual layers. These modules can be exploited to mechanistically dissect the impact of gene defects and accurately predict rare disease gene candidates. Our results show that the disease module formalism can be applied to rare diseases and generalized beyond physical interaction networks. These findings open up new venues to apply network-based tools for cross-scale data integration.

The methodological approach for the determination of the pressure of artificial raindrops as a question of the theory of splash soil erosion

2020 ◽  
pp. 24-28
Author(s):  
Mihail Zver'kov
Keyword(s):  
Block Diagram ◽  
Methodological Approach ◽  
Control Measures ◽  
Soil Conditions ◽  
Effective Pressure ◽  
Long Distance ◽  
Splash Erosion ◽  
Rain Drops ◽  
Artificial Rain ◽  
The Impact

To the article the results of the theoretical and experimental researches are given on questions of estimates of the dynamic rate effect of raindrop impact on soil. The aim of this work was to analyze the current methods to determine the rate of artificial rain pressure on the soil for the assessment of splash erosion. There are the developed author’s method for calculation the pressure of artificial rain on the soil and the assessment of splash erosion. The study aims to the justification of evaluation methods and the obtaining of quantitative characteristics, prevention and elimination of accelerated (anthropogenic) erosion, the creation and the realization of the required erosion control measures. The paper considers the question of determining the pressure of artificial rain on the soil. At the moment of raindrops impact, there is the tension in the soil, which is called vertical effective pressure. It is noted that the impact of rain drops in the soil there are stresses called vertical effective pressure. The equation for calculation of vertical effective pressure is proposed in this study using the known spectrum of raindrops. Effective pressure was 1.4 Pa for the artificial rain by sprinkler machine «Fregat» and 5.9 Pa for long distance sprinkler DD-30. The article deals with a block diagram of the sequence for determining the effective pressure of rain drops on the soil. This diagram was created by the author’s method of calculation of the effective pressure of rain drops on the soil. The need for an integrated approach to the description of the artificial rain impact on the soil is noted. Various parameters characterizing drop erosion are considered. There are data about the mass of splashed soil in the irrigation of various irrigation machinery and installations. For example, the rate (mass) of splashed soil was 0.28…0.78 t/ha under irrigation sprinkler apparatus RACO 4260–55/701C in the conditions of the Ryazan region. The method allows examining the environmental impact of sprinkler techniques for analyzes of the pressure, caused by raindrops, on the soil. It can also be useful in determining the irrigation rate before the runoff for different types of sprinkler equipment and soil conditions.

DISCRESSION OF THE SAMPLE RESORTS POLICE IN THE IMPLEMENTATION OF ADMINISTRATIVE LAW PERSPECTIVE INVESTIGATION

2020 ◽  
Vol 4 (2) ◽  
pp. 147
Author(s):  
Tamrin Muchsin ◽  
Sri Sudono Saliro ◽  
Nahot Tua Parlindungan Sihaloho ◽  
Sardjana Orba Manullang
Keyword(s):  
Empirical Research ◽  
Qualitative Method ◽  
Government Regulation ◽  
Sampling Technique ◽  
Administrative Law ◽  
Criminal Investigation ◽  
Accurate Data ◽  
Long Distance ◽  
The Impact ◽  
Depth Interviews

It is still found that investigating officers do not have an S1 degree or equivalent in thejurisdiction of the Sambass Resort Police as mandated in PP No. 58 of 2010 concerningAmendments to Government Regulation Number 27 of 1983 concerning theImplementation of KUHAP article 2A paragraph (1) letter a. If the requirements ofinvestigators are not fulfilled, there will automatically be limits of authority, includingthe inability to issue investigation orders, detention warrants and other administrativeletters. This study used a qualitative method with juridical empirical research. Toobtain accurate data, purposive sampling technique was used, and primary datacollection by conducting in-depth interviews. The research results found, among others:first, discretion regarding the administration of investigations in the jurisdiction of theSambas Resort Police for the Sambas District Police who do not have investigatingofficers who meet the requirements, is then taken over by the Head of the CriminalInvestigation Unit as the supervisor of the integrated criminal investigation function.Second, the impact of an integrated investigation administration causes the time tocarry out investigations to be slow due to the long distance between the Sector Policeand the Resort Police.

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