scholarly journals Practical Experience with Providing Specialized Social Services for Rare Disease Patients / Praktické skúsenosti v poskytovaní špeciálnych sociálnych služieb pre pacientov so zriedkavými chorobami

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 47-54
Author(s):  
A. Madunová ◽  
M. Duračinská
Keyword(s):  
Muscular Dystrophy ◽  
Rare Disease ◽  
Social Services ◽  
Slovak Republic ◽  
Information Service ◽  
Neuromuscular Diseases ◽  
Early Years ◽  
Personal Assistance ◽  
Patient Organizations ◽  
Wide Range

Organization of Muscular Dystrophy in the Slovak Republic (OMD in SR) is the only specific organization in Slovakia which associates children and adults with muscular dystrophy and other types of neuromuscular diseases (hereafter only NMD) and their families. The organization was founded as an independent public association in 1993. It has been providing social counselling and other specialized social services for its members and clients. In its early years, it performed the community service and nonprofit activities on a voluntary basis; today, a professional team of nine takes part in its activities, seven of which are people with extensive disability, plus two assistants. This change could take place thanks to having obtained the status of a protected workplace in 2009. In accordance with EURORDIS recommendations, OMD in SR takes care of activities in 3 different areas: information services and help line, therapeutic recreational programmes, and respite care services. As a part of the information service, it provides specialized social counselling for disabled people via phone, email, in person or in the field − at a patient’s place. The organization also publishes its own quality magazine Ozvena (ECHO), which is distributed free-of-charge to all members four times a year. People with NMD are involved in the creation of the magazine from the position of experts and patients. The organization is particularly devoted to Recreational activities the camps for children with NMD, especially boys with Duchenne muscular dystrophy. Activities organized every year include also integrative national meetings of members. The group of relief services includes providing specialized social services in the Personal Assistance Services Agency founded under OMD in SR. It provides wide-range service for 180 personal assistance users in Bratislava region; however, counselling covers the whole Slovakia. For a long time, the organization has been making effort to change regulations in the legislation which concern several aspects essential for people with NMD. Slovakia is not doing enough to provide financial support for functioning of patient organizations − the subsidy system does not take them into account and donation support is non-existent. A tool for change could and should be the National Plan for Rare Disease, which will not be really implemented without providing subsidies for patient organizations working in the area of rare diseases. In 2012, the organization became a member of EURORDIS and Alliance TREAT - NMD.

Rare diseases and their patient organization: the Hungarian Federation of People with Rare and Congenital Diseases

2014 ◽  
Vol 155 (9) ◽  
pp. 329-333
Author(s):  
Gábor Pogány
Keyword(s):  
Social Services ◽  
Rare Diseases ◽  
Poor Quality ◽  
Congenital Diseases ◽  
Governmental Organization ◽  
Patient Organizations ◽  
Long Duration ◽  
Care And Support ◽  
Educational Professionals ◽  
Duration Of Hospitalization

The aim of the author is to discuss special issues of rare diseases, with emphasis on circumstances present in Hungary, including those leading to the foundation of the non-governmental organization, the Hungarian Federation of People with Rare and Congenital Diseases. The author briefly reviews the most important findings of current international surveys which have been performed with or without the involvement of member associations of the Hungarian Federation of People with Rare and Congenital Diseases. At the level of medical and social services in Hungary, it is still “incidental” to get to the appropriate expert or centre providing the diagnosis or treatment. It is difficult to find the still very few existing services due to the lack of suitable “pathways” and referrals. There are long delays in obtaining the first appointment, resulting in vulnerability and inequality along the regions. The overall consequence is the insufficiency or lack of access to medical and social services. There are also difficulties related to the supply of orphan medication and the long duration of hospitalization. At the level of patient organizations financial scarcity and uncertainty are typical, combined with inappropriate infrastructural background and human resources. The poor quality of organization of patient bodies along with insufficient cooperation among them are characteristic as well. The author concludes that a National Plan or Strategy is needed to improve the current fragmentation of services which would enable patients and health, social and educational professionals to provide and use the best care in the practice. This would ensure all patients with rare diseases to be diagnosed within a possible shortest time allowing access to the care and support needed in time resulting in a decrease in burden of families and society. Orv. Hetil., 2014, 155(9), 329–333.

A reflection of the polyethnic phenomenon in the Slovak novel of the 21 st century

2019 ◽  
pp. 462-471
Author(s):  
Lyudmila Shirokova
Keyword(s):  
Interpersonal Relations ◽  
Slovak Republic ◽  
Main Character ◽  
Jewish Family ◽  
Wide Range ◽  
Provincial Society ◽  
A Chain ◽  
Middle Generation ◽  
Artistic Quality

The historical polyethnicity of the Slovak society and the connected problems of the interrelations of cultures, ethics, interpersonal relations, are reflected in the works of modern Slovak prose. They are represented most clearly in the novels of middle generation writers P. Rankov, S. Lavrík, P. Krištúfek. They dwell upon the dramatical events of the 20 th century. They cover wide range problems, from the fruitful coexistence of various ethnic groups and their representatives to national contradictions and racial repressions. The artistic quality of the mentioned works, their composition, the way of narrating, the type of the main character, can be highly evaluated. For example, in a novel by P. Rankov the plot, in spite of its linearity, is a chain of episodes in the span of 30 years from the life of the main characters. It reflects not only their fates, but also the historical and political changes of the world they live in. The main female character of a S. Lavrík ’s novel narrates about everyday life and tragedies in the lives of the dwellers of a Slovak town in the Slovak Republic during the war. P. Krištúfek in his novel focuses on several decades from the life of a Slovak-Jewish family and dwellers of a Slovak provincial society with types and relations specific for this milieu.

scholarly journals Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 998
Author(s):  
Rosario Licitra ◽  
Maria Marchese ◽  
Letizia Brogi ◽  
Baldassare Fronte ◽  
Letizia Pitto ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscular Dystrophy ◽  
Genomic Medicine ◽  
Neuromuscular Diseases ◽  
Dystrophin Gene ◽  
Neuromuscular Disorder ◽  
Heme Oxygenase 1 ◽  
Zebrafish Model ◽  
Screening Study

Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is an inherited neuromuscular disorder that causes loss of muscle mass and motor skills. In the era of genomic medicine, there is still no known cure for DMD. In clinical practice, there is a growing awareness of the possible importance of nutrition in neuromuscular diseases. This is mostly the result of patients’ or caregivers’ empirical reports of how active substances derived from food have led to improved muscle strength and, thus, better quality of life. In this report, we investigate several nutraceutical principles in the sapje strain of zebrafish, a validated model of DMD, in order to identify possible natural products that, if supplemented in the diet, might improve the quality of life of DMD patients. Gingerol, a constituent of fresh ginger, statistically increased the locomotion of mutant larvae and upregulated the expression of heme oxygenase 1, a target gene for therapy aimed at improving dystrophic symptoms. Although three other compounds showed a partial positive effect on locomotor and muscle structure phenotypes, our nutraceutical screening study lent preliminary support to the efficacy and safety only of gingerol. Gingerol could easily be proposed as a dietary supplement in DMD.

scholarly journals An Exploration of Learning Results and Curricula Gaps Within an Online Grandfamilies Certificate Program

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 70-71
Author(s):  
Jennifer Crittenden
Keyword(s):  
Online Education ◽  
Continuing Education ◽  
Social Services ◽  
Grandparents Raising Grandchildren ◽  
Wide Range ◽  
Program Content ◽  
Initial Program ◽  
Individual Program ◽  
Long Term Impact ◽  
Training Opportunities

Abstract Professionals who work with grandparents raising grandchildren have cross-cutting training needs that span content in gerontology, social services, child welfare and program development. To address these needs, a unique, asynchronous, online continuing education program was launched by the UMaine Center on Aging. To-date the program has 177 individual program completers with learners from across the U.S. and Hong Kong that are affiliated with a diverse set of organizations and perform a wide range of professional and lay functions. Participant data indicate that the program has appealed to a wide variety of learners including participants who serve caregivers generally (60.8%) and grandparents raising grandchildren specifically (81%). A small majority (55.6%) of the agency-based learners reported serving, on average, more than 40 grandfamilies annually. Self-reported learning levels were notable ranging from a mean low of 3.46 out of 4 points (N = 157, SD = 0.59) for the volunteer recruitment and mentorship programming module to a mean high of 3.79 (N = 167 ,SD = 0.45) for the caregiver self-care module. Evaluation results from the first seven learner cohorts underscore the efficacy of program content as well as the utility of performing an initial program needs assessment to guide curriculum development. Practice implications for future continuing education efforts targeting grandfamilies professionals and lay leaders include: the need for easily accessible online education in combination with supplemental training opportunities addressing topics such as the long-term impact of substance use disorder and trauma combined with locally relevant content on grandfamilies and legal resources.

scholarly journals Putting them on a strong spiritual path: Indigenous doulas responding to the needs of Indigenous mothers and communities

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Jaime Cidro ◽  
Caroline Doenmez ◽  
Stephanie Sinclair ◽  
Alexandra Nychuk ◽  
Larissa Wodtke ◽  
...  
Keyword(s):  
Social Services ◽  
Post Partum ◽  
Qualitative Interviews ◽  
Critical Role ◽  
Community Needs ◽  
Cultural Aspects ◽  
Trauma Informed Care ◽  
Wide Range ◽  
Post Partum Period ◽  
The Right

Abstract Objective In the past few years, increasing numbers of Indigenous doula collectives have been forming across Canada. Indigenous doulas provide continuous, culturally appropriate support to Indigenous women during pregnancy, birth, and the post-partum period. This support is critical to counter systemic medical racism and socioeconomic barriers that Indigenous families disproportionately face. This paper analyzes interviews with members of five Indigenous doula collectives to demonstrate their shared challenges, strategies, and missions. Methods Qualitative interviews were conducted with members of five Indigenous doula collectives across Canada in 2020. Interviews were transcribed and returned to participants for their approval. Approved transcripts were then coded by all members of the research team to ascertain the dominant themes emerging across the interviews. Results Two prominent themes emerged in the interviews. The first theme is “Indigenous doulas responding to community needs.” Participants indicated that responding to community needs involves harm reduction and trauma-informed care, supporting cultural aspects of birthing and family, and helping clients navigate socioeconomic barriers. The second theme is “Indigenous doulas building connections with mothers.” Participants’ comments on providing care to mothers emphasize the importance of advocacy in healthcare systems, boosting their clients’ confidence and skills, and being the “right” doula for their clients. These two inter-related themes stem from Indigenous doulas’ efforts to counter dynamics in healthcare and social services that can be harmful to Indigenous families, while also integrating cultural teachings and practices. Conclusion This paper illustrates that Indigenous doula care responds to a wide range of issues that affect Indigenous women’s experiences of pregnancy, birth, and the post-partum period. Through building strong, trusting, and non-judgemental connections with mothers and responding to community needs, Indigenous doulas play a critical role in countering medical racism in hospital settings and advancing the resurgence of Indigenous birthing sovereignty.

scholarly journals CONSERVATIVE PARTY AND THE PROBLEMS OF THE BRITISH EMPIRE IN THE EARLY YEARS OF THE SECOND WORLD WAR (on the pages of “Diary of a diplomat” by I. M. Maisky)

2016 ◽  
pp. 32-37
Author(s):  
E. V. Khakhalkina
Keyword(s):  
British Empire ◽  
Conservative Party ◽  
Second World War ◽  
Early Years ◽  
World War ◽  
Dominant Position ◽  
Wide Range ◽  
Close Relationship ◽  
The Uk ◽  
Second World

The “Diary” of the Soviet diplomat I. M. Maisky, who worked in London for more than ten years first as a messenger, then as the Soviet ambassador to the UK, is one of the valuable sources for the interwar period and the Second World War. The “Diary” contains records of Maisky’s conversations with the leading British politicians and public figures and his own thoughts on a wide range of issues, including the problems of the British Empire. The author of the paper analyzes the views of the Tories on the prospects for the British Empire and the Commonwealth of the postwar period and reveals the plans for the reconstruction of the Empire and its transformation while maintaining the dominant position of Britain in the format of a new relationship with the dominions and colonies. The paper shows that within the British political establishment there was no consensus on the future of the empire and, as the materials of the “Diary of diplomat” evidence, the problem of the evolution of the Empire had a close relationship with other areas of foreign and domestic policy.

scholarly journals Creating Additional Census Income Topics from Linked Administrative Data

2020 ◽  
Vol 5 (5) ◽  
Author(s):  
James Mowle
Keyword(s):  
Income Distribution ◽  
Social Services ◽  
Administrative Data ◽  
Census Data ◽  
Community Services ◽  
Wide Range ◽  
Australian Community ◽  
Linked Administrative Data ◽  
Australian Bureau Of Statistics ◽  
Integration Project

IntroductionThe Census is the largest statistical collection undertaken by the Australian Bureau of Statistics (ABS), with its data critical to informing the planning and delivery of Government and community services. While the Census measure of income supports a wide range of analysis, demand exists for additional income topics to complement and extend the range of socio economic analysis that can be undertaken. The ABS has recently developed three experimental income topics for the 2016 Census using linked administrative data: main source of income; main source of government payments; and previous financial year income. Objectives and ApproachThis research utilised administrative data integrated by the ABS for the Multi-Agency Data Integration Project (MADIP). Taxation data from the Australian Taxation Office (ATO) and social security data from the Department of Social Services (DSS) were used in conjunction with the 2016 Census data to derive the additional topics. ResultsOverall, the three measures compare relatively closely to similar measures from the ABS Survey of Income and Housing (SIH). The ‘Main source of income’ and ‘Main source of government payments’ measures exhibit similar distributions to those from the SIH. The ‘Previous financial year income’ measures compare more closely with Census and SIH at the higher end of the income distribution, with some differences apparent at the lower end of the income distribution. Conclusion / ImplicationsThis work demonstrates the potential to supplement and enhance existing Census topics with linked administrative data. Further research, development and consultation with data users and the Australian community is needed.

Differential diagnosis of Duchenne muscular dystrophy

2021 ◽  
Vol 2 (3) ◽  
pp. 159-166
Author(s):  
Alexey L. Kurenkov ◽  
Lyudmila M. Kuzenkova ◽  
Lale A. Pak ◽  
Bella I. Bursagova ◽  
Tatyana V. Podkletnova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Damage ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Muscular Dystrophies ◽  
Juvenile Form ◽  
Pathogenic Variants

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystrophies, facioscapulohumeral dystrophy, congenital muscular dystrophies, glycogenoses - the most common juvenile form of glycogenosis type II (Pompe disease)) and, much less often, congenital myopathies and other conditions of neuromuscular diseases). When conducting a differential diagnosis in a child with suspected DMD, the age of the onset of the disease, early initial clinical manifestations and the development of symptoms as they grow, genealogical analysis, laboratory tests (the level of creatine kinase, aspartate aminotransferase, alanine aminotransferase in blood serum), instrumental (electromyography, magnetic resonance imaging of the brain and muscles) and molecular genetics (polymerase chain reaction, multiplex ligation-dependent probe amplification, next-generation sequencing, Sanger sequencing, etc.) of studies, and in some cases, muscle biopsy data. Knowledge of the nuances of the differential diagnosis allows establishing a genetic diagnosis of DMD as early as possible, which is extremely important for the formation of the prognosis of the disease and the implementation of all available treatment methods, including pathogenetic therapy, and is also necessary for medical and genetic counselling of families with DMD patients.

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