Current Status of Genetic Counselling for Rare Diseases in Spain

Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors as healthcare professionals Thus, patients with RD face not only challenges associated with their own disease but also deal with lack of knowledge, uncertainty, and other psychosocial issues arising as a consequence of diagnostic delay. In this review, we highlight the importance of genetic counsellors in the field of RD as well as evaluate the current situation in which rare disease patients receive genetic services in Spain. We describe the main units and strategies at the national level assisting patients with RD and we conclude with a series of future perspectives and unmet needs that Spain should overcome to improve the management of patients with RD.

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Gender differences in patient journey to diagnosis and disease outcomes: results from the European Map of Axial Spondyloarthritis (EMAS)

Clinical Rheumatology ◽

10.1007/s10067-020-05558-7 ◽

2021 ◽

Author(s):

Marco Garrido-Cumbrera ◽

◽

Denis Poddubnyy ◽

Laure Gossec ◽

Raj Mahapatra ◽

...

Keyword(s):

Gender Differences ◽

Psychological Distress ◽

Disease Activity ◽

Healthcare Professionals ◽

Unmet Needs ◽

Axial Spondyloarthritis ◽

Diagnostic Delay ◽

Hla B27 ◽

Patient Journey ◽

Disease Characteristics

Abstract Introduction/objectives To evaluate the journey to diagnosis, disease characteristics and burden of disease in male and female patients with axial spondyloarthritis (axSpA) across Europe. Method Data from 2846 unselected patients participating in the European Map of Axial Spondyloarthritis (EMAS) study through an online survey (2017–2018) across 13 countries were analysed. Sociodemographic characteristics, lifestyle, diagnosis, disease characteristics and patient-reported outcomes (PROs) [disease activity –BASDAI (0–10), spinal stiffness (3–12), functional limitations (0–54) and psychological distress (GHQ-12)] were compared between males and females using chi-square (for categorical variables) and student t (for continuous variables) tests. Results In total, 1100 (38.7%) males and 1746 (61.3%) females participated in the EMAS. Compared with males, females reported considerable longer diagnostic delay (6.1 ± 7.4 vs 8.2 ± 8.9 years; p < 0.001), higher number of visits to physiotherapists (34.5% vs 49.5%; p < 0.001) and to osteopaths (13.3% vs 24.4%; p < 0.001) before being diagnosed and lower frequency of HLA-B27 carriership (80.2% vs 66.7%; p < 0.001). In addition, females reported higher degree of disease activity in all BASDAI aspects and greater psychological distress through GHQ-12 (4.4 ± 4.2 vs 5.3 ± 4.1; p < 0.001), as well as a greater use of alternative therapies. Conclusion The patient journey to diagnosis of axSpA is much longer and arduous in females, which may be related to physician bias and lower frequency of HLA-B27 carriership. Regarding PROs, females experience higher disease activity and poorer psychological health compared with males. These results reflect specific unmet needs in females with axSpA needing particular attention. Key Points• Healthcare professionals’ perception of axSpA as a predominantly male disease may introduce some bias during the diagnosis and management of the disease. However, evidence about male-female differences in axSpA is scarce.• EMAS results highlight how female axSpA patients report longer diagnostic delay and higher burden of the disease in a large sample of 2846 participants of 13 European countries.• Results reflect unmet needs of European female patients. Healthcare professionals should pay close attention in order to accurately diagnose and efficiently manage axSpA cases while further research should be developed on the cause of reported gender differences.

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Orphanet – Information, Education and Expert Centres for Rare Diseases / Orphanet – informovanosť, vzdelávanie a špecializované centrá starostlivosti o pacientov so ZCH

Acta Facultatis Pharmaceuticae Universitatis Comenianae ◽

10.2478/afpuc-2013-0002 ◽

2013 ◽

Vol 60 (Supplementum-VIII) ◽

pp. 10-15

Author(s):

L. Kovács ◽

E. Hegyi ◽

G. Nagyová

Keyword(s):

Rare Diseases ◽

National Level ◽

Quality Criteria ◽

Basic Data ◽

Current Status ◽

Paper Briefly ◽

European Reference Networks ◽

Reference Networks ◽

Centres Of Expertise

The paper briefly describes the role of Orphanet as an informational and educational source for rare diseases. Most attention is given to the Centres of Expertise and European Reference Networks. The authors suggest an easy procedure how to get the basic data about the readiness of the clinics to be recognised for Centres of Expertise at the national level. EUCERD recommendations on quality criteria for centres of expertise are introduced. The coordinators of the potential Centres of Expertise should be contacted and asked to fill in the questionnaire designed to check whether the centre matches the EUCERD recommendations or not. In order for the process to be transparent, the selection criteria of expert resources are listed on national website (www.orphanet.sk). The analysis of the questionnaires has to be carried out at the national level, to map the basic data about the current status. One questionnaire per department or clinic shall be filled in order to allow the evaluation. Clinics will be divided in two groups the ones which achieved the threshold and could be recognised as Centres of Expertise at the National level and the ones which need to be further monitored to reach the threshold.

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Diagnostic delay in rare diseases: a documented list of (296) rare diseases for which delayed diagnosis would be especially detrimental, based on the French situation

10.21203/rs.3.rs-32308/v1 ◽

2020 ◽

Author(s):

Pierre-Etienne CHAZAL ◽

Anne-Sophie CHALANDON ◽

Ségolène AYMÉ ◽

Christian DELEUZE

Keyword(s):

Medicinal Product ◽

Rare Diseases ◽

Clinical Guidelines ◽

Clinical Management ◽

Care Management ◽

Unmet Needs ◽

Diagnostic Delay ◽

Delayed Diagnosis ◽

Digital Technologies ◽

Standard Of Care

Abstract BackgroundA timely diagnosis is a critical step to ensure a proper access to expert clinical management for patients. However, diagnosing rare diseases (RD) is a major challenge, as these diseases are extremely diverse in their expression, cause, semiology and nosology. Today, the development of digital technologies offers genuine opportunities for improving diagnosis and care in a sector with urgent needs. However, developing and testing digital solutions would only be possible for a limited number of Rare Diseases (RD). ResultsThe approach presented in this article aims at proposing an ethical and rational way of defining a subset of “priority” rare diseases to focus on, based on pathologies for which an established and effective standard of care management is defined. Two types of management were considered: the existence of a medicinal product specifically targeting the disease; and / or the existence of authoritative clinical guidelines in France. Our work led to the establishment of a list of 251 RD for which a delayed diagnosis would be especially detrimental. ConclusionIt remains now to establish whether the diagnosis of these RD is especially delayed, or not, before setting up targeted initiatives to reverse the situation. Clarifying choices when taking initiatives to develop solution in a field with so many unmet needs is an element of an ethical approach.

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Country Rankings of Women's Status: An Alternative Index

The Pakistan Development Review ◽

10.30541/v34i4iiipp.1025-1039 ◽

1995 ◽

Vol 34 (4III) ◽

pp. 1025-1039 ◽

Cited By ~ 1

Author(s):

Yasmeen Mohiuddln

Keyword(s):

Developing Countries ◽

Composite Index ◽

Developed Countries ◽

Women's Status ◽

Current Status ◽

Implicit Assumption ◽

Women’S Status ◽

Country Rankings ◽

Population Crisis ◽

Status Of Women

The purpose of the present paper is to formulate a composite index of the status of women and to rank both developed and developing countries on the basis of that index. This index is presented as an alternative or complement to the current status of women index, published by the Population Crisis Committee (PCC) and used by the World Bank and the United Nations, which focuses on indicators measuring health, education, employment, marriage and childbearing, and social equality. The paper argues that these indicators have a poverty-bias and measure women's status in terms of structural change rather than in terms of their welfare vis-ii-vis men. The PCC index is also based on the implicit assumption that women's status in developing countries ought to be defined in a similar way as in developed countries, thus including primarily only those indicators which are more relevant for developed countries. To remedy these defects, the paper presents an alternative composite index, hereafter labelled the Alternative Composite (AC) index, based on many more indicators reflecting women's issues in both developed and developing countries. The results of the statistical analysis show that the ranking of countries based on the AC index is significantly different from the PCC index.

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Baseline risk factor prevalence among adolescents aged 15–17 years old: findings from National Non-communicable Disease Monitoring Survey (NNMS) of India

BMJ Open ◽

10.1136/bmjopen-2020-044066 ◽

2021 ◽

Vol 11 (6) ◽

pp. e044066

Author(s):

Prashant Mathur ◽

Vaitheeswaran Kulothungan ◽

Sravya Leburu ◽

Anand Krishnan ◽

Himanshu Kumar Chaturvedi ◽

...

Keyword(s):

Physical Activity ◽

Risk Factors ◽

Rural Areas ◽

Communicable Disease ◽

National Level ◽

Developed Countries ◽

Overweight And Obesity ◽

Baseline Risk ◽

Attitudes And Practices ◽

Non Communicable Disease

ObjectiveTo generate national estimates of key non-communicable disease (NCD) risk factors for adolescents (15–17 years) identified in the National NCD Monitoring Framework and, study the knowledge, attitudes and practices towards NCD risk behaviours among school-going adolescents.Design and settingA community-based, national, cross-sectional survey conducted during 2017–2018. The survey was coordinated by the Indian Council of Medical Research—National Centre for Disease Informatics and Research with 10 reputed implementing research institutes/organisations across India in urban and rural areas.ParticipantsA multistage sampling design was adopted covering ages between 15 and 69 years—adolescents (15–17 years) and adults (18–69 years). The sample included 12 000 households drawn from 600 primary sampling units. All available adolescents (15–17 years) from the selected households were included in the survey.Main outcome measuresKey NCD risk factors for adolescents (15–17 years)—current tobacco and alcohol use, dietary behaviours, insufficient physical activity, overweight and obesity.ResultsOverall, 1402 households and 1531 adolescents completed the survey. Prevalence of current daily use of tobacco was 3.1% (95% CI: 2.0% to 4.7%), 25.2% (95% CI: 22.2% to 28.5%) adolescents showed insufficient levels of physical activity, 6.2% (95% CI: 4.9% to 7.9%) were overweight and 1.8% (95% CI: 1.0% to 2.9%) were obese. Two-thirds reported being imparted health education on NCD risk factors in their schools/colleges.ConclusionThe survey provides baseline data on NCD-related key risk factors among 15–17 years in India. These national-level data fill information gaps for this age group and help assess India’s progress towards NCD targets set for 2025 comprehensively. Though the prevalence of select risk factors is much lower than in many developed countries, this study offers national evidence for revisiting and framing appropriate policies, strategies for prevention and control of NCDs in younger age groups.

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Water Use Efficiency Current Status Assessment in the Context of WATenERgy CYCLE Project

Proceedings ◽

10.3390/proceedings2110602 ◽

2018 ◽

Vol 2 (11) ◽

pp. 602

Author(s):

Stavroula Tsitsifli ◽

Anastasia Papadopoulou ◽

Vasilis Kanakoudis ◽

Konstantinos Gonelas

Keyword(s):

Water Supply ◽

Water Use Efficiency ◽

Water Use ◽

Methodological Approach ◽

National Level ◽

Water Utilities ◽

Current Status ◽

Water Supply Systems ◽

Use Efficiency ◽

Supply Systems

Water use efficiency is a crucial issue in drinking water utilities as it is connected to environmental and economic consequences. WATenERgy CYCLE project aims at developing a methodological approach towards efficient and effective transnational water and energy resources management in the Balkan–Mediterranean area. The paper presents the results of performance evaluation of the water supply systems of the water utilities involved in the project, both at local and national level. The methodology used in the water balance and performance indicators as well as data on the operational status of the water supply systems. The results showed that Non-Revenue Water is one of the major problems addressed.

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A systematic review of waterborne disease burden methodologies from developed countries

Journal of Water and Health ◽

10.2166/wh.2014.049 ◽

2014 ◽

Vol 12 (4) ◽

pp. 634-655 ◽

Cited By ~ 14

Author(s):

H. M. Murphy ◽

K. D. M. Pintar ◽

E. A. McBean ◽

M. K. Thomas

Keyword(s):

Systematic Review ◽

Drinking Water ◽

Health Risks ◽

Distribution System ◽

National Level ◽

Developed Countries ◽

Extreme Weather Events ◽

Treatment Level ◽

Waterborne Disease ◽

True Incidence

The true incidence of endemic acute gastrointestinal illness (AGI) attributable to drinking water in Canada is unknown. Using a systematic review framework, the literature was evaluated to identify methods used to attribute AGI to drinking water. Several strategies have been suggested or applied to quantify AGI attributable to drinking water at a national level. These vary from simple point estimates, to quantitative microbial risk assessment, to Monte Carlo simulations, which rely on assumptions and epidemiological data from the literature. Using two methods proposed by researchers in the USA, this paper compares the current approaches and key assumptions. Knowledge gaps are identified to inform future waterborne disease attribution estimates. To improve future estimates, there is a need for robust epidemiological studies that quantify the health risks associated with small, private water systems, groundwater systems and the influence of distribution system intrusions on risk. Quantification of the occurrence of enteric pathogens in water supplies, particularly for groundwater, is needed. In addition, there are unanswered questions regarding the susceptibility of vulnerable sub-populations to these pathogens and the influence of extreme weather events (precipitation) on AGI-related health risks. National centralized data to quantify the proportions of the population served by different water sources, by treatment level, source water quality, and the condition of the distribution system infrastructure, are needed.

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Grant writing: Moving from generating ideas to applying to grants that matter

The International Journal of Psychiatry in Medicine ◽

10.1177/0091217417730287 ◽

2017 ◽

Vol 52 (3) ◽

pp. 236-244

Author(s):

David Nelson ◽

Leslie Ruffalo

Keyword(s):

Health Disparities ◽

Healthcare Professionals ◽

Behavioral Science ◽

The United States ◽

Grant Writing ◽

Psychosocial Issues ◽

Health Issues ◽

Community Settings ◽

Innovative Strategies ◽

Fund Research

There is an extraordinary burden placed upon the healthcare system and people as a result of health disparities that exist within the United States. If there is going to be a concerted effort to develop innovative strategies to reduce health disparities, input from the community and behavioral scientists can and should be included in this approach and narrative. Grant writing provides one vehicle to express the narrative and to provide a means to fund research and programs within clinic-based and community settings. This paper describes a four-step inquiry process to guide healthcare professionals with varying degrees of clinical and scholarship interests through the grant writing process. They include: (1) Why write grants (motivations), (2) what is the area of focus? (Interests), (3) whom should be on the project? (partnerships), and (4) what needs to happen next to move the idea forward? (actions) The complexity of psychosocial issues means that behavioral science is well suited to develop both hypotheses-driven and phenomenological research to understand bio-psycho-social health issues. Grant writing does not need to be mysterious or daunting. It can provide a means to an end, not only to fund research but also as a means to an end of health disparities.

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Environmental Behavior in Cross-National Perspective

Environment and Behavior ◽

10.1177/0013916515600494 ◽

2016 ◽

Vol 49 (1) ◽

pp. 31-58 ◽

Cited By ~ 44

Author(s):

Ignacio Pisano ◽

Mark Lubell

Keyword(s):

Environmental Behavior ◽

National Level ◽

Developed Countries ◽

Education Development ◽

Proenvironmental Behavior ◽

Individual Level ◽

Country Level ◽

National Differences ◽

Cultural Research ◽

Cross National

This article seeks to explain cross-national differences on environmental behavior. After controlling for a series of sociodemographic and psychosocial factors, it was predicted that national levels of wealth, postmaterialism, education development, and environmental problems are positively related to environmental behavior. The national-level variance is to a substantial degree explained by individual-level variables, capturing compositional effects. The remaining variance is explained by the contextual-level variables. All of the country-level variables are predictors in the expected direction, with the exception of environmental degradation, which is negatively related to behavior, and education development, which has no impact on private environmental behavior. More importantly, cross-level interactions show that in more developed countries, there are stronger relationships between proecological attitudes and reported proenvironmental behavior. These findings contribute to the growing cross-cultural research on environmental behavior pointing out the necessity of simultaneously assessing the effects of both individual and contextual-level forces affecting behavior across nations.

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Preventing School Shootings: The Interprofessional and Community Approach to Prevention

Journal of Social Change ◽

10.5590/josc.2020.12.1.04 ◽

2020 ◽

Vol 12 (1) ◽

Author(s):

Heather C Alonge ◽

Constant P Craig

Keyword(s):

Law Enforcement ◽

School Safety ◽

National Level ◽

The United States ◽

School Shootings ◽

School Level ◽

Current Status ◽

School Design ◽

Safety Issues ◽

Community Approach

This essay examined the issue of school shootings within the United States, to include a literature review and analysis of the current status of the issue on a national level. From the review and analysis, the essay provides the multidisciplines engaged in school safety issues with viable, workable, and quickly implementable solutions to address this serious national issue at the local school district and even school level of implementation. This analysis examined a multidiscipline and multiprofessional community approach using existing federal guidelines that address actionable intelligence (social media and human information/informants), school design and incorporation of safety and protective features, involvement of law enforcement on campuses, and engagement of law enforcement with administrators and educators. Most importantly, it provides awareness to educators, administrators, and law enforcement along with the general public that the attitude of “It can’t happen here” can indeed and way too many times it has “happened here.”

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