scholarly journals Rare diseases – a challenge for the medical world

2021 ◽  
pp. e503
Author(s):  
Kamila Bokayeva ◽  
Alua Miraleyeva ◽  
Dariusz Walkowiak
Keyword(s):  
Healthcare System ◽  
Rare Diseases ◽  
Healthcare Professionals ◽  
Point Of View ◽  
Diagnosis And Treatment

The diagnosis and treatment of rare diseases have improved significantly in recent years. The length of the diagnosis, which from the point of view of patients and their caregivers was considered the "Achilles' heel" of the healthcare system, has significantly shortened in many cases. Nevertheless, as research shows, there is still much to be done regarding the knowledge of rare diseases among healthcare professionals. The processes of diagnosis and treatment, as well as their organisation, should be redefined.

scholarly journals Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Cristina Domínguez-González ◽  
Marcos Madruga-Garrido ◽  
Michio Hirano ◽  
Itxaso Martí ◽  
Miguel A. Martín ◽  
...  
Keyword(s):  
Healthcare System ◽  
Rare Diseases ◽  
Clinical Care ◽  
Neuromuscular Disorders ◽  
Clinical Manifestations ◽  
Diagnosis And Treatment ◽  
Genetic Diagnostics ◽  
Main Body ◽  
Pyrimidine Nucleotides ◽  
Mitochondrial Dna Depletion

Abstract Background Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically experience delays in diagnosis and treatment. Here, we describe a unique collaborative practice model among physicians and scientists in Spain focused on identifying TK2 deficiency (TK2d), an ultra-rare mitochondrial DNA depletion and deletions syndrome. Main Body This collaboration spans research and clinical care, including laboratory scientists, adult and pediatric neuromuscular clinicians, geneticists, and pathologists, and has resulted in diagnosis and consolidation of care for patients with TK2d. The incidence of TK2d is not known; however, the first clinical cases of TK2d were reported in 2001, and only ~ 107 unique cases had been reported as of 2018. This unique collaboration in Spain has led to the diagnosis of more than 30 patients with genetically confirmed TK2d across different regions of the country. Research affiliate centers have led investigative treatment with nucleosides based on understanding of TK2d clinical manifestations and disease mechanisms, which resulted in successful treatment of a TK2d mouse model with nucleotide therapy in 2010. Only 1 year later, this collaboration enabled rapid adoption of treatment with pyrimidine nucleotides (and later, nucleosides) under compassionate use. Success in TK2d diagnosis and treatment in Spain is attributable to two important factors: Spain’s fully public national healthcare system, and the designation in 2015 of major National Reference Centers for Neuromuscular Disorders (CSURs). CSUR networking and dissemination facilitated development of a collaborative care network for TK2d disease, wherein participants share information and protocols to request approval from the Ministry of Health to initiate nucleoside therapy. Data have recently been collected in a retrospective study conducted under a Good Clinical Practice–compliant protocol to support development of a new therapeutic approach for TK2d, a progressive disease with no approved therapies. Conclusions The Spanish experience in diagnosis and treatment of TK2d is a model for the diagnosis and development of new treatments for very rare diseases within an existing healthcare system.

scholarly journals Availability and Use of Mobile Health Technology for Disease Diagnosis and Treatment Support by Health Workers in the Ashanti Region of Ghana: A Cross-Sectional Survey

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1233
Author(s):  
Ernest Osei ◽  
Kwasi Agyei ◽  
Boikhutso Tlou ◽  
Tivani P. Mashamba-Thompson
Keyword(s):  
Healthcare Professionals ◽  
Healthcare Delivery ◽  
Disease Diagnosis ◽  
Text Messages ◽  
Diagnosis And Treatment ◽  
Cross Sectional Survey ◽  
Mobile Wireless ◽  
Ashanti Region ◽  
Phone Calls ◽  
Treatment Support

Mobile health (mHealth) technologies have been identified as promising strategies for improving access to healthcare delivery and patient outcomes. However, the extent of availability and use of mHealth among healthcare professionals in Ghana is not known. The study’s main objective was to examine the availability and use of mHealth for disease diagnosis and treatment support by healthcare professionals in the Ashanti Region of Ghana. A cross-sectional survey was carried out among 285 healthcare professionals across 100 primary healthcare clinics in the Ashanti Region with an adopted survey tool. We obtained data on the participants’ background, available health infrastructure, healthcare workforce competency, ownership of a mobile wireless device, usefulness of mHealth, ease of use of mHealth, user satisfaction, and behavioural intention to use mHealth. Descriptive statistics were conducted to characterise healthcare professionals’ demographics and clinical features. Multivariate logistic regression analysis was performed to explore the influence of the demographic factors on the availability and use of mHealth for disease diagnosis and treatment support. STATA version 15 was used to complete all the statistical analyses. Out of the 285 healthcare professionals, 64.91% indicated that mHealth is available to them, while 35.08% have no access to mHealth. Of the 185 healthcare professionals who have access to mHealth, 98.4% are currently using mHealth to support healthcare delivery. Logistic regression model analysis significantly (p < 0.05) identified that factors such as the availability of mobile wireless devices, phone calls, text messages, and mobile apps are associated with HIV, TB, medication adherence, clinic appointments, and others. There is a significant association between the availability of mobile wireless devices, text messages, phone calls, mobile apps, and their use for disease diagnosis and treatment compliance from the chi-square test analysis. The findings demonstrate a low level of mHealth use for disease diagnosis and treatment support by healthcare professionals at rural clinics. We encourage policymakers to promote the implementation of mHealth in rural clinics.

scholarly journals A qualitative study on the experiences of southern European immigrant parents navigating the Norwegian healthcare system

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Raquel Herrero-Arias ◽  
Esperanza Diaz
Keyword(s):  
Healthcare System ◽  
Health Beliefs ◽  
Diagnostic Tests ◽  
Home Country ◽  
Healthcare Services ◽  
Diagnosis And Treatment ◽  
Immigrant Parents ◽  
Health Providers ◽  
Treatment Practices ◽  
Cultural Health Beliefs

Abstract Background Patients’ experiences with health providers and their diagnostic and treatment expectations are shaped by cultural health beliefs and previous experiences with healthcare services in home country. This study explores how Southern European immigrant parents navigate the Norwegian healthcare system, through its focus on how this group manage their expectations on diagnosis and treatment practices when these are unmet. Methods The study had a qualitative research design. Fourteen in-depth interviews and two focus group discussions with 20 Southern European immigrant parents were conducted in 2017 in three Norwegian municipalities. With the help of NVivo software, data were transcribed verbatim and coded. Following a thematic analysis approach to identify patterns in immigrants’ experiences with the Norwegian healthcare services, the codes were organized into two themes. Results The first theme includes immigrants’ expectations on diagnostic tests and medical treatment. Southern European immigrants expected more diagnostic tests and pharmacological treatment than what was deemed necessary by Norwegian health providers. Experiences with unmet expectations influenced how immigrants addressed their and their children’s healthcare needs. The second theme comprises immigrants’ experiences of seeking healthcare in Norway (attending medical consultations in the private sector, seeking immigrant healthcare providers, and navigating the healthcare through their Norwegian social networks). This category includes also the alternative solutions immigrants undertook when they were dissatisfied with the diagnosis and treatment practices they were offered in Norway (self-medication and seeking healthcare in home countries). Conclusions Cultural health beliefs and previous experiences with healthcare services from home country shaped immigrants’ expectations on diagnosis and treatment practices. This had great implications for their navigation through the healthcare system and interactions with health providers in the host country. The study suggests that successful inclusion of immigrants into the Norwegian healthcare system requires an acknowledgement of the cultural factors that influence access and use of healthcare services. Exploring immigrants’ perspectives and experiences offers important information to understand the challenges of cross-cultural healthcare and to improve communication and equitable access.

scholarly journals Exploiting Clonal Evolution to Improve the Diagnosis and Treatment Efficacy Prediction in Pediatric AML

Cancers ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 1995
Author(s):  
Salvatore Nicola Bertuccio ◽  
Laura Anselmi ◽  
Riccardo Masetti ◽  
Annalisa Lonetti ◽  
Sara Cerasi ◽  
...  
Keyword(s):  
Treatment Efficacy ◽  
Clonal Evolution ◽  
Poor Response ◽  
Point Of View ◽  
Diagnosis And Treatment ◽  
Preclinical Model ◽  
Therapeutic Protocols ◽  
Pediatric Aml ◽  
Patients Experience ◽  
Efficacy Prediction

Despite improvements in therapeutic protocols and in risk stratification, acute myeloid leukemia (AML) remains the leading cause of childhood leukemic mortality. Indeed, the overall survival accounts for ~70% but still ~30% of pediatric patients experience relapse, with poor response to conventional chemotherapy. Thus, there is an urgent need to improve diagnosis and treatment efficacy prediction in the context of this disease. Nowadays, in the era of high throughput techniques, AML has emerged as an extremely heterogeneous disease from a genetic point of view. Different subclones characterized by specific molecular profiles display different degrees of susceptibility to conventional treatments. In this review, we describe in detail this genetic heterogeneity of pediatric AML and how it is linked to relapse in terms of clonal evolution. We highlight some innovative tools to characterize minor subclones that could help to enhance diagnosis and a preclinical model suitable for drugs screening. The final ambition of research is represented by targeted therapy, which could improve the prognosis of pediatric AML patients, as well as to limit the side toxicity of current treatments.

An overview on the concept of “Aam” and its significance as mentioned in Ayurvedic texts.

2020 ◽  
Vol 8 (01) ◽  
Author(s):  
Tejaswini Katare ◽  
Disha Sharma ◽  
Ganesh Puradkar ◽  
Arun Dudhamal
Keyword(s):  
Point Of View ◽  
The Body ◽  
Diagnosis And Treatment ◽  
Important Concept ◽  
Root Cause ◽  
Causative Factors ◽  
Undigested Food ◽  
Unhealthy Diet ◽  
Lack Of Exercise ◽  
All Diseases

Aam is an important concept described by Ayurvedic Acharyas which is responsible for many diseases. According to Ayurvedic point of view, all diseases are originated from aamdosh, vitiation of Agni i.e malfunction of Agni produces Aam. Aam is unripe, undigested food which is caused due to Agnimandya. Agnimandya produces aam and viceversa. We all know that all diseases are caused due to Agnimandya. Therefore as agnimandya and aam are the causative factors of each other, aam is the root cause of all diseases. Hence aam and agnimandya plays an important role in diagnosis and treatment of disease. Nowadays due to lack of exercise, unhygienic and unhealthy diet, incapability to obey the rules of sound body maintenance and increasing pollution results in agnimandya and aam production in the body and decrease in immunity resulting into various diseases. The concept of aam is the most important fundamental principal of Ayurveda in understanding the physio- pathology of the disease.

scholarly journals The case for open science: rare diseases

JAMIA Open ◽  
2020 ◽  
Vol 3 (3) ◽  
pp. 472-486
Author(s):  
Yaffa R Rubinstein ◽  
Peter N Robinson ◽  
William A Gahl ◽  
Paul Avillach ◽  
Gareth Baynam ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Medical Management ◽  
Open Science ◽  
Patient Data ◽  
Diagnosis And Treatment ◽  
Community Research ◽  
The Core ◽  
Delays In Diagnosis

Abstract The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally.

scholarly journals Rare Tumors and Diseases of the Thyroid (Book Review)

2001 ◽  
Vol 47 (2) ◽  
pp. 45-45
Author(s):  
V. A. Privalov
Keyword(s):  
Thyroid Gland ◽  
Rare Diseases ◽  
Diagnosis And Treatment ◽  
Additional Information ◽  
Rare Tumors ◽  
New Knowledge

The article is a review of the book by Prof. S. B. Pinsky and corresponding member of the RAMS A. P. Kalinin et al. on rare diseases and tumors of the thyroid gland, which is an extremely important and useful guide for practitioners. Generalization of experience, obtaining additional information and new knowledge about rare diseases will help to avoid errors in the diagnosis and treatment of this complex contingent of patients.

Business Ethics and the Greek Healthcare System

2018 ◽  
pp. 100-127 ◽  
Author(s):  
Vaitsa Giannouli
Keyword(s):  
Business Ethics ◽  
Healthcare System ◽  
Healthcare Professionals ◽  
Maslach Burnout Inventory ◽  
Healthcare Services ◽  
Ethical Values ◽  
Structured Interviews ◽  
Future Directions ◽  
Emotional Aspects ◽  
Job Affect

This chapter provides a review not only of classic literature on healthcare business and ethics, but also an introduction to the legal changes in the Greek healthcare system with ethical values on focus. A study examining in both a quantitative and qualitative way what the Greek healthcare experts think and feel about ethics and healthcare services presents the factors that shape attitudes towards ethical values from the viewpoint of the healthcare professionals. For this reason, 34 semi-structured interviews, accompanied by the administration of perceived cohesion scale, generalized immediacy scale, job affect scale, state anxiety inventory, Maslach burnout inventory, and the attitude towards business ethics questionnaire revealed that healthcare professionals do have knowledge of ethical values and moral responsibility, but no clear connections with specific emotional aspects were found. The chapter concludes with future directions on how business ethics can be further examined and applied.

Recruitment and Retention of Healthcare Professionals for the Changing Demographics, Culture, and Access in Canada

2011 ◽  
pp. 96-111
Author(s):  
Stéfane M. Kabene ◽  
Melody Wolfe ◽  
Raymond Leduc
Keyword(s):  
Rural Communities ◽  
Human Resources ◽  
Healthcare System ◽  
Access To Health Care ◽  
Healthcare Professionals ◽  
Human Resources Management ◽  
Healthcare Access ◽  
Healthcare Providers ◽  
Remote Access ◽  
Changing Demographics

The Canadian healthcare system strives to serve a population altered by ever-changing demographics, cultural shifts, and diverse societal populations, and to serve those in rural communities with remote access to health care. The following chapter examines Canada’s current healthcare system and the effects on demand for services and the supply of healthcare providers created by the need to service rural populations, by limited access to medical schools, and by the introduction of foreign medical/health professionals. More specifically, the chapter reviews the symptoms of a strained medical system plagued by “brain waste” due to the non-use of qualified immigrant healthcare professionals, long wait times as a result of inadequate staffing and resources, and a school system that hinders the development of aspiring medical care professionals from rural and international areas. If Canada is to face these challenges with efficacy and vigour, effective human resources management techniques and competent human resources professionals are a necessary prologue. Medical knowledge and skill must be valued; healthcare professionals should be utilized more efficiently to improve healthcare access and minimize brain waste.

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