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Nursing Reports
Special Issues
Nursing in the World of Rare Diseases
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Nursing in the World of Rare Diseases

A special issue of Nursing Reports (ISSN 2039-4403).

Deadline for manuscript submissions: 1 February 2025 | Viewed by 1842

Special Issue Editors

Dr. Jonathan Cortés Martín

E-Mail Website
Guest Editor
Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain
Interests: rare diseases and pregnant women
Special Issues, Collections and Topics in MDPI journals
Dr. Raquel Rodríguez-Blanque

E-Mail Website
Guest Editor
Department of Nursing, Faculty of Health Sciences, University of Granada, 18016 Granada, Spain
Interests: rare diseases and pregnant women
Special Issues, Collections and Topics in MDPI journals
Dr. Juan Carlos Sánchez-García

E-Mail Website
Guest Editor
Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain
Interests: rare diseases and pregnant women
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

It is time for nursing to break down the established barriers and begin to flourish in the field of rare diseases. Nursing as a science and as a clinical discipline must be able to express itself through specific channels such as this journal. Rare diseases are those that have a prevalence of less than 5 cases per 10,000 people and develop in a very particular setting. The scarce and outdated published literature, these diseases’ low prevalence, a lack of knowledge, delayed diagnosis and a lack of effective treatments are some of the issues encountered in this field. The majority of rare diseases have no curative treatment, making nursing care crucial to the maintenance of the quality of life of these patients and their families.

The synergy between the concept of nursing and rare diseases opens up an interesting and necessary line of research that will have a significant impact on clinical approaches to these pathologies. Potential topics include, but are not limited to, the following:

  • Update of knowledge in the world of rare diseases.
  • Description of clinical cases.
  • Pregnancy, childbirth and puerperium in rare diseases.
  • Psycho-emotional aspects in patients with rare diseases.
  • Strategies and specific care plans.
  • Sexuality in patients with rare diseases.
  • Perceptions and experiences of patients and relatives regarding the world of rare diseases.
  • Nutrition, lifestyle and physical exercise in rare diseases.

The aim of this Special Issue is to update the existing knowledge on rare diseases from a nursing perspective and to make these pathologies more visible. We welcome review articles, case reports, qualitative studies and all types of original articles

Dr. Jonathan Cortés Martín
Dr. Raquel Rodríguez-Blanque
Dr. Juan Carlos Sánchez-García
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Nursing Reports is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare diseases
  • case reports
  • pregnancy
  • childbirth
  • puerperium
  • breastfeeding
  • sexuality
  • nutrition
  • lifestyle
  • physical exercise
  • nursing care
  • psycho-emotional aspects

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  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (2 papers)

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11 pages, 228 KiB  
Article
Current Practice and Perspectives on Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Antibody Deficiency Among Specialized Nurses in Poland
by Dorota Mizera, Radosław Dziedzic, Anna Drynda, Aleksandra Matyja-Bednarczyk, Agnieszka Padjas, Magdalena Celińska-Löwenhoff, Bogdan Jakieła and Stanisława Bazan-Socha
Nurs. Rep. 2024, 14(4), 3280-3290; https://doi.org/10.3390/nursrep14040238 - 1 Nov 2024
Viewed by 613
Abstract
Background/Objectives: Inborn errors of immunity (IEI) encompass various congenital disorders, resulting in immunity defects and recurrent infections. Home-based subcutaneous immunoglobulin replacement therapy (scIgRT) is the best treatment option for those with primary antibody deficiency (PAD). However, the lack of standardized procedures in patient [...] Read more.
Background/Objectives: Inborn errors of immunity (IEI) encompass various congenital disorders, resulting in immunity defects and recurrent infections. Home-based subcutaneous immunoglobulin replacement therapy (scIgRT) is the best treatment option for those with primary antibody deficiency (PAD). However, the lack of standardized procedures in patient training remains a challenge. Our study investigates nurses’ practice and perspectives, aiming to identify areas for improvement in at-home scIgRT practice. Methods: We prepared a structured survey regarding scIgRT, including needle choice experience and perception of adverse events, and distributed it among qualified nurses involved in patient training and scIgRT supervising. Results: We included 56 nurses with a median age of 50 years. Among them, 67.9% represented adult care providers, while 32.1% supervised IgRT in children. Most respondents (83.9%) used the classic or assisted with hyaluronidase scIgRT preparations. Single-channel needles were administered most commonly (85.7%). The needle length was mostly chosen solely by a nurse (57.1%) or in cooperation with the patient (23.2%). Next, 9 mm and 12 mm needles were used most often (92.9% and 78.6%, respectively). As expected, the 6 mm needle was more frequently applied for children compared to adults (n = 16, 88.9% vs. n = 11, 28.9%, p < 0.001), while 12 mm was primarily used in adults (n = 35, 92.1% vs. n = 9, 50.0%, p < 0.001). Visual skin fold assessment was the basis for the needle selection (58.9%), followed by the injection site rule (26.8%) or a choice between two available needle types for thinner or thicker patients (25.0%). Results of this survey indicate that, according to nurses’ opinions presented in this survey, the needle length could be associated with local scIgRT adverse events, such as side needle leakage or local burning. Yet, it was likely unrelated to general adverse signs, such as headaches or dizziness. Most respondents (66.1%) indicated that, even if local adverse events occur, patients are reluctant to change scIgRT preparation or needle length. Most participants (69.6%) reported that the optimal administration technique needs to be discussed with the patient before and during scIgRT. Conclusions: This study sheds light on scIgRT practice in Poland, emphasizing deficiency in needle selection technique. Future research should focus on standardized training and advanced needle selection procedures on patient outcomes, investigating the correlation between needle strategies and adverse events, as well as the effectiveness of scIgRT. Full article
(This article belongs to the Special Issue Nursing in the World of Rare Diseases)

Other

Jump to: Research

16 pages, 396 KiB  
Systematic Review
Psycho-Emotional Aspects of Pregnant Women Diagnosed with a Rare Disease: A Systematic Review
by Celia Cortés-Martín, Juan Carlos Sánchez-García, Beatriz Piqueras-Sola, Jonathan Cortés-Martín, Andrés Reinoso-Cobo, Jose Manuel Martínez-Linares and Raquel Rodríguez-Blanque
Nurs. Rep. 2024, 14(4), 3391-3406; https://doi.org/10.3390/nursrep14040245 - 6 Nov 2024
Viewed by 586
Abstract
Background: Psycho-emotional aspects as a cross-cutting theme have gained relevance and scientific interest in recent years. Pregnant women diagnosed with a rare disease constitute a vulnerable population, experiencing psycho-emotional challenges due to their specific circumstances. It is essential that this group is [...] Read more.
Background: Psycho-emotional aspects as a cross-cutting theme have gained relevance and scientific interest in recent years. Pregnant women diagnosed with a rare disease constitute a vulnerable population, experiencing psycho-emotional challenges due to their specific circumstances. It is essential that this group is informed and receives the proper to manage the physical, emotional, and psychological challenges linked to their condition. Objectives: The aim of this review is to understand how the diagnosis of a rare disease affects the psycho-emotional aspects of a pregnant woman. Methods: The research question posed is how does the diagnosis of a rare disease affect the psycho-emotional aspects of a pregnant woman? This systematic review has been carried out following the PRISMA model and has been registered in PROSPERO with registration number CRD42024558523. A literature search was conducted in the databases of Scopus, PubMed, Cinahl, Scielo, and the Cochrane Library. Articles were selected on the basis of the following inclusion criteria: publication in the last twenty years and all languages. Results: In the end, 28 articles were selected. The main results highlight that there is a negative impact on the psycho-emotional level in these patients, altering aspects such as anxiety, stress, social rejection, and self-stigma. Conclusion: The role of nursing in addressing this psycho-emotional dimension as a mediator between families and other branches of the health sciences environment stands out. Full article
(This article belongs to the Special Issue Nursing in the World of Rare Diseases)
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