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Medicina
Special Issues
Discovering the World of Rare Diseases
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Discovering the World of Rare Diseases

A special issue of Medicina (ISSN 1648-9144).

Deadline for manuscript submissions: closed (1 January 2023) | Viewed by 21238

Special Issue Editors

Dr. Maria Sofia Cotelli

E-Mail Website
Guest Editor
Neurology Unit, Vallecamonica Hospital, Esine, Brescia, Italy
Interests: neurodegenerative disorders; neuromuscular disorders; rare diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Filippo Manelli

E-Mail Website
Guest Editor
Emergency Department, ASST-Valcamonica, Esine, Brescia, Italy
Interests: emergency medicine; rare diseases; endocrinology; metabolism; resuscitation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Rare diseases, although individually uncommon, can affect a significant proportion of the population (5–8% of the global population, 7.9% of those younger than 25). In Europe, the European Medicines Agency specifies that rare disorders should include those with a prevalence of less than 5 in 10,000 people (equivalent to less than 1 in 2,000).

The exact number of rare diseases is variable, from 5.000 to 8.000, of which 80% have a genetic etiology.

A report from the 2005 European Conference on Rare Diseases, evaluating the life expectancy of patients affected with 323 rare diseases, concluded that 25.7% of rare diseases could be considered potentially lethal before 5 years of age and that a further 36.8% lead to a reduced life expectancy, while only about a third (37.5%) are associated with a normal lifespan.

We are pleased to invite you and your coworkers to contribute to this Special Issue with original research reports, reviews, or meta-analyses on the topics of rare diseases, evaluating the incidence and prevalence of rare diseases in different countries, diagnostic approaches and delays, standard protocols of care, and national legislation and registries.

Dr. Maria Sofia Cotelli
Dr. Filippo Manelli
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. Medicina is an international peer-reviewed open access monthly 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
  • incidence
  • prevalence
  • diagnostic approach
  • standards of care

Published Papers (5 papers)

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Research

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14 pages, 2352 KiB  
Article
Clinical Characteristics and Disease Course of Fibrosing Interstitial Lung Disease Patients in a Real-World Setting
by Maritta Kilpeläinen, Tuuli Hirvonen, Katariina Perkonoja and Samuli Hirsjärvi
Medicina 2023, 59(2), 281; https://doi.org/10.3390/medicina59020281 - 31 Jan 2023
Cited by 1 | Viewed by 1917
Abstract
Background and Objectives: This single-center retrospective study was conducted to describe clinical characteristics and the disease course of patients with interstitial lung diseases (ILD). Materials and Methods: The study included adult patients with fibrosing ILD (IPF, non-IPF fibrosing ILD (F-ILD), and [...] Read more.
Background and Objectives: This single-center retrospective study was conducted to describe clinical characteristics and the disease course of patients with interstitial lung diseases (ILD). Materials and Methods: The study included adult patients with fibrosing ILD (IPF, non-IPF fibrosing ILD (F-ILD), and non-IPF progressive pulmonary fibrosis (PPF)) treated between 2014 and 2017. Patients were followed annually from the first visit until the end of the study period in 2019. Data were collected from the Turku University Hospital data lake and analyzed using descriptive statistics. Results: 591 patients formed the patient cohort: 110 had IPF, 194 F-ILD, 142 PPF, and the remaining 145 patients were uncertain, F-ILD-U, whose disease progression nature could not be confirmed by FVC measurements. There were more males in each patient group and median age of the groups was similar, although there were younger patients in the PPF, F-ILD, and F-ILD-U groups. PPF patients had more UIP pattern than F-ILD patients. Exposure-related ILDs were clearly the most found ILD diagnoses for both PPF and F-ILD, followed by unclassifiable IIP. Baseline FVC % predicted reduction in every group was moderate. Half of the patients in each group had comorbidities, and the most common were cardiovascular diseases, diabetes, sleep apnea, and chronic lower respiratory diseases; F-ILD-U patients had malignant diseases as well. IPF patients had less medications than the other groups. Glucocorticoids were the most used medication in all patient groups. More PPF and F-ILD patients remained in the follow-up than IPF and F-ILD-U patients. Similarly, mortality of F-ILD-U was the highest, followed by IPF. Evolvement of lung function, oxygen use, and number of acute hospitalizations were similar for IPF and PPF patients whereas the corresponding results were always better for F-ILD patients. Conclusions: The disease course of IPF and PPF was similar, and PPF patient amount exceeded the amount of IPF patients. Full article
(This article belongs to the Special Issue Discovering the World of Rare Diseases)
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14 pages, 1144 KiB  
Article
The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases
by Styliani-Aggeliki Sintila, Marina Boziki, Christos Bakirtzis, Thomai Stardeli, Nikoletta Smyrni, Ioannis Nikolaidis, Dimitrios Parissis, Theodora Afrantou, Theodore Karapanayiotides, Ioanna Koutroulou, Virginia Giantzi, Paschalis Theotokis, Evangelia Kesidou, Georgia Xiromerisiou, Efthimios Dardiotis, Panagiotis Ioannidis and Nikolaos Grigoriadis
Medicina 2023, 59(2), 266; https://doi.org/10.3390/medicina59020266 - 30 Jan 2023
Cited by 1 | Viewed by 1730
Abstract
Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from national health systems. Aim: The aim of this [...] Read more.
Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from national health systems. Aim: The aim of this study is to describe the clinical characteristics of, and the available laboratory examinations for, patients who were hospitalized in a tertiary referral center and finally received a diagnosis associated with a Rare Neurological Disease (RND). Materials and Methods: Patients that were hospitalized in our clinic from 1 January 2014 to 31 March 2022 and were finally diagnosed with an RND were consecutively included. The RND classification was performed according to the ORPHAcode system. Results: A total of 342 out of 11.850 (2.9%) adult patients admitted to our department during this period received a diagnosis associated with an RND. The most common diagnosis (N = 80, 23%) involved an RND presenting with dementia, followed by a motor neuron disease spectrum disorder (N = 64, 18.7%). Family history indicative of an RND was present in only 21 patients (6.1%). Fifty-five (16%) people had previously been misdiagnosed with another neurological condition. The mean time delay between disease onset and diagnosis was 4.24 ± 0.41 years. Conclusions: Our data indicate that a broad spectrum of RNDs may reach a tertiary Neurological Center after a significant delay. Moreover, our data underline the need for a network of reference centers, both at a national and international level, expected to support research on the diagnosis and treatment of RND. Full article
(This article belongs to the Special Issue Discovering the World of Rare Diseases)
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10 pages, 313 KiB  
Article
Impact of COVID-19 Pandemic on Disease Control Status and Quality of Life of Patients with Acromegaly
by Rok Herman, Andrej Janež, Katja Goričar, Manfredi Rizzo and Mojca Jensterle
Medicina 2022, 58(12), 1711; https://doi.org/10.3390/medicina58121711 - 23 Nov 2022
Viewed by 1543
Abstract
Background and Objectives: Despite the best efforts of healthcare workers and the deployment of alternative healthcare delivery solutions through telemedicine, the pandemic has disrupted standard care for patients with chronic conditions. The long-lasting pandemic has also had a profound impact on the [...] Read more.
Background and Objectives: Despite the best efforts of healthcare workers and the deployment of alternative healthcare delivery solutions through telemedicine, the pandemic has disrupted standard care for patients with chronic conditions. The long-lasting pandemic has also had a profound impact on the quality of life (QoL) of the majority of patients with chronic illnesses. The management of rare diseases has been particularly challenging. We aimed to evaluate the impacts that the long-lasting pandemic had on the disease control status and QoL in patients with acromegaly. Materials and Methods: Our prospective study included 34 patients from a national referral centre. The baseline SAGIT and AcroQoL results were obtained in October 2020 during the lockdown period of the SARS-CoV2 pandemic. The follow-up results were assessed during the summer of 2022 in a period without any public health restrictions. All the patients were additionally evaluated for their attitude towards preventative public health measures against SARS-CoV2 spread and required mask wearing during the pandemic. Results: By comparing assessments in 2020 during the lockdown period and 2022 post-lockdown, we observed some improvement in SAGIT subscores T and I, most likely reflecting treatment changes in a small number of patients. The global SAGIT score remained stable. QoL measurement by AcroQoL did not demonstrate any changes. There was a negative correlation between SAGIT subscore S and the AcroQoL results. We also noted that the group of patients with the most negative attitude toward public health measurements for preventing SARS-CoV2 spread had higher AcroQoL results than others. Conclusion: Our results showcase that the SARS-CoV2 pandemic, lasting over two years, did not impact the disease control status and QoL in patients with acromegaly. The cohort continued to be well controlled and without changes in QoL. We measured a relatively favourable attitude towards the public health measures to prevent the spread of SARS-CoV2; in particular, patients who had a lower QoL had more positive attitudes towards these measures. Full article
(This article belongs to the Special Issue Discovering the World of Rare Diseases)

Review

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13 pages, 4565 KiB  
Review
The Cyst of the Canal of Nuck: Anatomy, Diagnostic and Treatment of a Very Rare Diagnosis—A Case Report of an Adult Woman and Narrative Review of the Literature
by Michael Kohlhauser, Julian Vinzent Pirsch, Thorsten Maier, Christian Viertler and Roland Fegerl
Medicina 2022, 58(10), 1353; https://doi.org/10.3390/medicina58101353 - 27 Sep 2022
Cited by 9 | Viewed by 12782
Abstract
The cyst of the canal of Nuck is an extremely rare female hydrocele, usually occurring in children, but also in adult women. It is caused by pathology of the canal of Nuck, which is the female equivalent to the male processus vaginalis. Due [...] Read more.
The cyst of the canal of Nuck is an extremely rare female hydrocele, usually occurring in children, but also in adult women. It is caused by pathology of the canal of Nuck, which is the female equivalent to the male processus vaginalis. Due to its rarity and the lack of awareness among physicians, the cyst of the canal of Nuck is a seldom-encountered entity in clinical practice and is commonly misdiagnosed. We report on a case of cyst of the canal of Nuck in a 42-year-old woman, who presented with a painful swelling at her right groin. In addition, we conducted a review of the current available literature. This review gives an overview of the anatomy, pathology, diagnostics, and treatment of the cyst of the canal of Nuck. The aim of this review is not only to give a survey, but also to raise awareness of the cyst of the canal of Nuck and serve as a reference for medical professionals. Full article
(This article belongs to the Special Issue Discovering the World of Rare Diseases)
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Other

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15 pages, 1739 KiB  
Systematic Review
Concomitant Guillain–Barré Syndrome and COVID-19: A Meta-Analysis of Cases
by Skylar A. Bentley, Sarfraz Ahmad, Firas H. Kobeissy and Hale Z. Toklu
Medicina 2022, 58(12), 1835; https://doi.org/10.3390/medicina58121835 - 13 Dec 2022
Cited by 7 | Viewed by 2479
Abstract
Background and Objectives: Recent findings demonstrate that the transmigration of severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) to the nervous system implicates severe neurotropic pathologies, including the onset of the rare disease called Guillain–Barré syndrome (GBS) which is characterized by immune-mediated polyneuropathy. [...] Read more.
Background and Objectives: Recent findings demonstrate that the transmigration of severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) to the nervous system implicates severe neurotropic pathologies, including the onset of the rare disease called Guillain–Barré syndrome (GBS) which is characterized by immune-mediated polyneuropathy. This study aimed to identify the predisposing factors and the clinical features of coronavirus disease 2019 (COVID-19)-induced GBS. Materials and Methods: We have performed an analysis of 147 cases. A systematic review of the published research work was performed per the PRISMA statement to obtain individual participant data (IPD) for the meta-analysis. The search was conducted through PubMed, using the combined search terms “Guillain–Barré syndrome” and “COVID-19”. All case reports and series in the English language with accessed full text were included in the search. Results: A systematic database search led to the retrieval of 112 peer-reviewed articles published between 1 April 2020, and 8 February 2022. The articles comprised 16 case series and 96 case reports containing IPD for 147 patients. Our findings showed that 77.6% of all cases were 40 years or older. Males comprised most of the cases (65.3%; n = 96). The intensive care unit (ICU) admission was 44.9%, and the need for mechanical ventilation (MV) was 38.1%. The patients presented with hyporeflexia or areflexia (84.4%; n = 124), lower limb strength and sensation impairment (93.2%; n = 138), upper limb strength and sensation impairment (85.7; n = 126), and somatic sensation impairment (72.8%; n = 107). The patients presented with increased cerebral spinal fluid (CSF) protein levels (92%; n = 92) and the presence of CSF albuminocytological dissociation (83.5%; n = 71). The most common variant of GBS observed was acute inflammatory demyelinating polyneuropathy (AIDP). We found that predisposing factors concomitant with COVID-19 and GBS were male gender and older age. Among the cases, patient mortality was 10.9%. Conclusions: A gap of knowledge exists regarding the complete spectrum of clinical characteristics of COVID-19-related GBS. Recent findings suggest that SARS-CoV-2 triggers GBS, as it follows a similar para-infectious pattern as the other viral agents contributing to the onset of GBS. Full article
(This article belongs to the Special Issue Discovering the World of Rare Diseases)
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