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Medicina
Special Issues
Diagnosis and Therapy of Rare Diseases
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Diagnosis and Therapy of Rare Diseases

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Genetics and Molecular Medicine".

Deadline for manuscript submissions: 31 March 2025 | Viewed by 8765

Special Issue Editors

Dr. Emilia Severin

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Guest Editor
Department of Genetics, Carol Davila University of Medicine and Pharmacy, 020027 Bucharest, Romania
Interests: rare diseases
Dr. Nicoleta Andreescu

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Guest Editor
Centre of Genomic Medicine, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
Interests: genetics in rare diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Magdalena Budisteanu

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Guest Editor
Department of Pediatric Neurology, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania
Interests: neurodevelopmental disorders; pediatric neurology; eating disorders; depressive/anxiety disorders; psychotic disorders; child and adolescent mental health; rare pediatric neurological diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue on the "Diagnosis and Therapy of Rare Diseases" is dedicated to advancing our understanding and management of these medically challenging conditions. Rare diseases are characterized by their low prevalence. While each rare disease only affects a small number of people, collectively, there are over 6000 rare diseases impacting approximately 4% of the global population, constituting one of the largest patient communities. Rare diseases present unique diagnostic and therapeutic challenges.

This Issue aims to highlight the latest research and innovative approaches aimed at improving and transforming the lives of this vulnerable population. Our objective is to compile a collection of articles addressing the diverse aspects of rare diseases, spanning emerging genetic insights to practical clinical applications. We invite contributions encompassing the genetic foundations of rare diseases, state-of-the-art diagnostic methods, and cutting-edge therapeutic strategies.

The diverse and dynamic nature of cutting-edge research in rare diseases, such as exploring therapies targeting specific genetic mutations to improve lung function in cystic fibrosis or gene therapies in conditions such as spinal muscular atrophy, focuses on improving diagnostics, treatment options, and the overall quality of life for individuals affected by these conditions.

We welcome original research, reviews, case studies, and discussions concerning the ethical and legal considerations associated with rare disease management. Researchers, clinicians, and experts in the field are encouraged to share their insights into the molecular mechanisms, biomarkers, and multidisciplinary approaches that facilitate earlier, faster, and more accurate diagnosis, along with ensuring treatment availability, accessibility, and affordability.

Join us in advancing knowledge and fostering collaboration in the pursuit of improved diagnosis and therapy for individuals living with rare diseases.

Dr. Emilia Severin
Dr. Nicoleta Andreescu
Dr. Magdalena Budisteanu
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 2200 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

  • diagnostic advances
  • therapeutic strategies
  • molecular mechanism
  • genetic discoveries
  • clinical trials
  • patient-centered research

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Published Papers (4 papers)

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Research

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15 pages, 1710 KiB  
Article
Evaluating Therapy and Growth in Children with Phenylketonuria: A Retrospective Longitudinal Study from Two Romanian Centers
by Meda-Ada Bugi, Iulius Jugănaru, Iulia-Elena Simina, Delia-Maria Nicoară, Lucian-Ioan Cristun, Giorgiana-Flavia Brad, Delia Huțanu, Raluca Isac, Kinga Kozma, Daniela Cîrnatu and Otilia Mărginean
Medicina 2024, 60(7), 1185; https://doi.org/10.3390/medicina60071185 - 22 Jul 2024
Viewed by 1667
Abstract
Background and Objectives: Phenylketonuria (PKU) is a rare genetic disorder characterized by the inability to convert the essential amino acid phenylalanine into tyrosine. Early dietary treatment can successfully prevent complications, but controversies still exist regarding the attainment of normal growth in these [...] Read more.
Background and Objectives: Phenylketonuria (PKU) is a rare genetic disorder characterized by the inability to convert the essential amino acid phenylalanine into tyrosine. Early dietary treatment can successfully prevent complications, but controversies still exist regarding the attainment of normal growth in these patients. Materials and Methods: Eighteen patients with PKU from two Romanian reference centers were compared to eighteen non-PKU controls, matched for age and gender. The comparisons used weight-for-height, weight-for-age, height/length-for-age, and body mass index-for-age z-scores from birth to three years of age. Results: The PKU study group consisted of nine boys and nine girls, with a median follow-up period of thirty-six months (interquartile range = 9.75). While median values of all four growth metrics remained within the normal range across the entire study period, weight-for-age z-scores were significantly lower in PKU patients throughout most of the study (p < 0.001). Conclusions: The persistent lower weight-for-age z-scores of the PKU patients compared to controls indicate that ongoing monitoring and potential adjustments in dietary therapy may be necessary to further optimize growth outcomes. Full article
(This article belongs to the Special Issue Diagnosis and Therapy of Rare Diseases)
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17 pages, 1337 KiB  
Article
Wolfram Syndrome Type I Case Report and Review—Focus on Early Diagnosis and Genetic Variants
by Alexandru Daniel Jurca, Larisa Bianca Galea-Holhos, Aurora Alexandra Jurca, Diter Atasie, Codruta Diana Petchesi, Emilia Severin and Claudia Maria Jurca
Medicina 2024, 60(7), 1064; https://doi.org/10.3390/medicina60071064 - 28 Jun 2024
Viewed by 1602
Abstract
Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM), progressive optic atrophy (OA), diabetes insipidus [...] Read more.
Background and Objectives: Wolfram syndrome type 1 (OMIM# 222300; ORPHAcode 3463) is an extremely rare autosomal recessive syndrome with a 25% recurrence risk in children. It is characterized by the presence of juvenile-onset diabetes mellitus (DM), progressive optic atrophy (OA), diabetes insipidus (DI), and sensorineural deafness (D), often referred to by the acronym DIDMOAD. It is a severe neurodegenerative disease with a life expectancy of 39 years, with death occurring due to cerebral atrophy. For a positive diagnosis, the presence of diabetes mellitus and optic nerve atrophy is sufficient. The disease occurs because of pathogenic variants in the WFS1 gene. The aim of this article is to present a case report of Wolfram Syndrome Type I, alongside a review of genetic variants, clinical manifestations, diagnosis, therapy, and long-term management. Emphasizing the importance of early diagnosis and a multidisciplinary approach, the study aims to enhance understanding and improve outcomes for patients with this complex syndrome. Materials and Methods: A case of a 28-year-old patient diagnosed with DM at the age of 6 and with progressive optic atrophy at 26 years old is presented. Molecular diagnosis revealed the presence of a heterozygous nonsense variant WFS1 c.1943G>A (p.Trp648*), and a heterozygous missense variant WFS1 c.1675G>C (p.Ala559Pro). Results: The molecular diagnosis of the patient confirmed the presence of a heterozygous nonsense variant and a heterozygous missense variant in the WFS1 gene, correlating with the clinical presentation of Wolfram syndrome type 1. Both allelic variants found in our patient have been previously described in other patients, whilst this combination has not been described before. Conclusions: This case report and review underscores the critical role of early recognition and diagnosis in Wolfram syndrome, facilitated by genetic testing. By identifying pathogenic variants in the WFS1 gene, genetic testing not only confirms diagnosis but also guides clinical management and informs genetic counseling for affected families. Timely intervention based on genetic insights can potentially reduce the progressive multisystem manifestations of the syndrome, thereby improving the quality of life and outcomes for patients. Full article
(This article belongs to the Special Issue Diagnosis and Therapy of Rare Diseases)
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Review

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17 pages, 415 KiB  
Review
Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review
by Lorin-Manuel Pîrlog, Andrada-Adelaida Pătrășcanu, Mariela Sanda Militaru and Andreea Cătană
Medicina 2024, 60(5), 767; https://doi.org/10.3390/medicina60050767 - 6 May 2024
Viewed by 2262
Abstract
PTEN Hamartoma Tumour Syndrome (PHTS) encompasses diverse clinical phenotypes, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome. This autosomal dominant genetic predisposition with high penetrance arises from heterozygous germline variants in the PTEN tumour suppressor gene, leading to [...] Read more.
PTEN Hamartoma Tumour Syndrome (PHTS) encompasses diverse clinical phenotypes, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome. This autosomal dominant genetic predisposition with high penetrance arises from heterozygous germline variants in the PTEN tumour suppressor gene, leading to dysregulation of the PI3K/AKT/mTOR signalling pathway, which promotes the overgrowth of multiple and heterogenous tissue types. Clinical presentations of CS range from benign and malignant disorders, affecting nearly every system within the human body. CS is the most diagnosed syndrome among the PHTS group, notwithstanding its weak incidence (1:200,000), for which it is considered rare, and its precise incidence remains unknown among other important factors. The literature is notably inconsistent in reporting the frequencies and occurrences of these disorders, adding an element of bias and uncertainty when looking back at the available research. In this review, we aimed to highlight the significant disparities found in various studies concerning CS and to review the clinical manifestations encountered in CS patients. Furthermore, we intended to emphasize the great significance of early diagnosis as patients will benefit from a longer lifespan while being unceasingly advised and supported by a multidisciplinary team. Full article
(This article belongs to the Special Issue Diagnosis and Therapy of Rare Diseases)
14 pages, 919 KiB  
Review
Multiple Keratoacanthoma-like Syndromes: Case Report and Literature Review
by Emmanouil Karampinis, Christina Kostopoulou, Olga Toli, Leonidas Marinos, George Papadimitriou, Angeliki Victoria Roussaki Schulze and Efterpi Zafiriou
Medicina 2024, 60(3), 371; https://doi.org/10.3390/medicina60030371 - 22 Feb 2024
Cited by 3 | Viewed by 1937
Abstract
Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson–Smith syndrome), [...] Read more.
Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson–Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir–Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions’ undefined nature, and the co-existence of other malignant skin tumors. Herein, we report a case of a 40-year-old woman who developed multiple treatment-resistant Ferguson–Smith-like keratoacanthomas with a co-existing large and ulcerated invasive squamous cell carcinoma and microcystic adnexal carcinoma on the scalp. Multiple keratoacanthomas on her extremities were successfully treated with oral acitretin (0.5 mg/kg/day) in combination with topical Fluorouracil (5-FU) 5%, while excision and plastic surgery restoration were performed to treat the ulcerated cancer lesion on her scalp. Due to the interesting nature of this rare syndrome, we performed a literature review including case reports and case series on multiple-KA-like lesions syndromes and focusing on diagnosis and therapy approaches. We also conducted a comparison of patient reports, which included assessing the clinical appearance of the lesions and evaluating the success and progress or the failure of various treatment approaches that were implemented. Full article
(This article belongs to the Special Issue Diagnosis and Therapy of Rare Diseases)
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