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European Respiratory Review : An... Sep 2017http://ow.ly/djOX30e6DT0
http://ow.ly/djOX30e6DT0
Topics: Biomedical Research; Congresses as Topic; Genetic Predisposition to Disease; Humans; Lung Diseases; Orphan Drug Production; Phenotype; Prognosis; Rare Diseases; Risk Factors
PubMed: 28877977
DOI: 10.1183/16000617.0059-2017 -
European Journal of Human Genetics :... Sep 2021
Topics: Europe; Genetic Diseases, Inborn; Genetic Testing; Humans; Rare Diseases
PubMed: 34140650
DOI: 10.1038/s41431-021-00924-8 -
International Journal of Environmental... Dec 2022Rare diseases are a subject of great scientific and health interest that has been on the rise in recent years [...].
Rare diseases are a subject of great scientific and health interest that has been on the rise in recent years [...].
Topics: Humans; Rare Diseases; Delivery of Health Care; Health Facilities
PubMed: 36612717
DOI: 10.3390/ijerph20010395 -
Clinical Microbiology and Infection :... Apr 2014The mortality associated with invasive fungal infections remains high with that involving rare yeast pathogens other than Candida being no exception. This is in part due...
The mortality associated with invasive fungal infections remains high with that involving rare yeast pathogens other than Candida being no exception. This is in part due to the severe underlying conditions typically predisposing patients to these healthcare-related infections (most often severe neutropenia in patients with haematological malignancies), and in part due to the often challenging intrinsic susceptibility pattern of the pathogens that potentially leads to delayed appropriate antifungal treatment. A panel of experts of the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Fungal Infection Study Group (EFISG) and the European Confederation of Medical Mycology (ECMM) undertook a data review and compiled guidelines for the diagnostic tests and procedures for detection and management of rare invasive yeast infections. The rare yeast pathogens were defined and limited to the following genera/species: Cryptococcus adeliensis, Cryptococcus albidus, Cryptococcus curvatus, Cryptococcus flavescens, Cryptococcus laurentii and Cryptococcus uniguttulatus (often published under the name Filobasidium uniguttulatum), Malassezia furfur, Malassezia globosa, Malassezia pachydermatis and Malassezia restricta, Pseudozyma spp., Rhodotorula glutinis, Rhodotorula minuta and Rhodotorula mucilaginosa, Sporobolomyces spp., Trichosporon asahii, Trichosporon asteroides, Trichosporon dermatis, Trichosporon inkin, Trichosporon jirovecii, Trichosporon loubieri, Trichosporon mucoides and Trichosporon mycotoxinivorans and ascomycetous ones: Geotrichum candidum, Kodamaea ohmeri, Saccharomyces cerevisiae (incl. S. boulardii) and Saprochaete capitatae (Magnusiomyces (Blastoschizomyces) capitatus formerly named Trichosporon capitatum or Geotrichum (Dipodascus) capitatum) and Saprochaete clavata. Recommendations about the microbiological investigation and detection of invasive infection were made and current knowledge on the most appropriate antifungal and supportive treatment was reviewed. In addition, remarks about antifungal susceptibility testing were made.
Topics: Humans; Mycoses; Rare Diseases
PubMed: 24102785
DOI: 10.1111/1469-0691.12360 -
European Journal of Human Genetics :... Dec 2021
Topics: Genetic Diseases, Inborn; Genetic Testing; Genomics; Humans; Rare Diseases
PubMed: 34848842
DOI: 10.1038/s41431-021-01001-w -
International Journal of Molecular... Jun 2022A rare disease is defined by its low prevalence in the general population [...].
A rare disease is defined by its low prevalence in the general population [...].
Topics: Humans; Rare Diseases
PubMed: 35742964
DOI: 10.3390/ijms23126525 -
Journal of Translational Medicine Jun 2023In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million...
BACKGROUND
In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under the auspices of the Center for Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including targeted genetic testing, research, and education.
METHODS
Patients were identified by subspecialty healthcare providers from 11 clinical divisions/departments. Targeted multi-gene panels or custom exome/genome-based panels were utilized. To support the goals of PRaUD, a new clinical service model, the Genetic Testing and Counseling (GTAC) unit, was established to improve access and increase efficiency for genetic test facilitation. The GTAC unit includes genetic counselors, genetic counseling assistants, genetic nurses, and a medical geneticist. Patients receive abbreviated point-of-care genetic counseling and testing through a partnership with subspecialty providers.
RESULTS
Implementation of PRaUD began in 2018 and GTAC unit launched in 2020 to support program expansion. Currently, 29 RD clinical indications are included in 11 specialty divisions/departments with over 142 referring providers. To date, 1152 patients have been evaluated with an overall solved or likely solved rate of 17.5% and as high as 66.7% depending on the phenotype. Noteworthy, 42.7% of the solved or likely solved patients underwent changes in medical management and outcome based on genetic test results.
CONCLUSION
Implementation of PRaUD and GTAC have enabled subspecialty practices advance expertise in RD where genetic counselors have not historically been embedded in practice. Democratizing access to genetic testing and counseling can broaden the reach of patients with RD and increase the diagnostic yield of such indications leading to better medical management as well as expanding research opportunities.
Topics: United States; Humans; Rare Diseases; Undiagnosed Diseases; Tertiary Healthcare; Genomic Medicine; Genetic Testing; Genetic Counseling
PubMed: 37353797
DOI: 10.1186/s12967-023-04183-7 -
Laryngo- Rhino- Otologie Apr 2021This review article covers data on rare diseases of the larynx, the trachea and the thyroid. In particular, congenital malformations, rare manifestations of inflammatory... (Review)
Review
This review article covers data on rare diseases of the larynx, the trachea and the thyroid. In particular, congenital malformations, rare manifestations of inflammatory laryngeal disorders, benign and malignant epithelial as well as non-epithelial tumors, laryngeal and tracheal manifestations of general diseases and, finally, thyroid disorders are discussed. The individual chapters contain an overview of the data situation in the literature, the clinical appearance of each disorder, important key points for diagnosis and therapy and a statement on the prognosis of the disease. Finally, the authors indicate on study registers and self-help groups.
Topics: Humans; Laryngeal Diseases; Larynx; Rare Diseases; Thyroid Gland; Trachea
PubMed: 34352904
DOI: 10.1055/a-1337-5703 -
Laeknabladid
Topics: Humans; Iceland; Rare Diseases
PubMed: 38420957
DOI: 10.17992/lbl.2024.03.783 -
Bundesgesundheitsblatt,... Nov 2022The use of standardized data formats (data standards) in healthcare supports four main goals: (1) exchange of data, (2) integration of computer systems and tools,... (Review)
Review
The use of standardized data formats (data standards) in healthcare supports four main goals: (1) exchange of data, (2) integration of computer systems and tools, (3) data storage and archiving, and (4) support of federated databases. Standards are especially important for rare-disease research and clinical care.In this review, we introduce healthcare standards and present a selection of standards that are commonly used in the field of rare diseases. The Human Phenotype Ontology (HPO) is the most commonly used standard for annotating phenotypic abnormalities and supporting phenotype-driven analysis of diagnostic exome and genome sequencing. Numerous standards for diseases are available that support a range of needs. Online Mendelian Inheritance in Man (OMIM) and the Orphanet Rare Disease Ontology (ORDO) are the most important standards developed specifically for rare diseases. The Mondo Disease Ontology (Mondo) is a new disease ontology that aims to integrate data from a comprehensive range of current nosologies. New standards and schemas such as the Medical Action Ontology (MAxO) and the Global Alliance for Genomics and Health (GA4GH) phenopacket are being introduced to extend the scope of standards that support rare disease research.In order to provide optimal care for patients with SE in different healthcare settings, it will be necessary to better integrate standards for rare disease with electronic healthcare resources such as the Fast Healthcare Interoperability Resources (FHIR) standard for healthcare data exchange.
Topics: Humans; Rare Diseases; Germany; Databases, Genetic; Information Storage and Retrieval; Phenotype; Electronic Health Records
PubMed: 36149471
DOI: 10.1007/s00103-022-03591-2