scholarly journals Introductory Chapter: Advances in the Diagnosis and Management of Rare Diseases

Rare Diseases ◽  
2020 ◽  
Author(s):  
Zhan He Wu
Keyword(s):  
Rare Diseases ◽  
Diagnosis And Management

scholarly journals Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Prathima Sreenivasan ◽  
Faizal C. Peedikayil ◽  
Sumal V. Raj ◽  
Manasa Anand Meundi
Keyword(s):  
Early Diagnosis ◽  
Rare Diseases ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Patient Reporting ◽  
Review Of The Literature ◽  
Diagnosis And Management

Trismus pseudocamptodactyly syndrome is a very rare autosomal dominant inherited disorder characterized by the inability to completely open the mouth (trismus) and the presence of abnormally short tendon units causing the fingers to curve (camptodactyly). Early diagnosis and management of this condition is important to prevent facial deformities in the patient. Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. Here, we report a case of trismus pseudocamptodactyly syndrome in an eight-year-old boy with a brief review of the literature.

scholarly journals Difficulties in diagnosis and management of mastocytosis in clinical practice and role of patients' associations

2017 ◽  
Vol 12 (2) ◽  
pp. 45-49
Author(s):  
Polliana Mihaela LERU ◽  
◽  
Dumitru MATEI ◽  
Keyword(s):  
Clinical Practice ◽  
Rare Disease ◽  
Rare Diseases ◽  
Medical Information ◽  
Treatment Options ◽  
Delayed Diagnosis ◽  
Interdisciplinary Approach ◽  
Diagnosis And Management ◽  
Care Givers ◽  
Health Authorities

Mastocytosis is a heterogeneous group of disorders characterized by abnormal expansion and accumulation of mast cells in one or more organs. It is a rare disease, with uncertain prevalence in many countries. The diagnosis and management of rare diseases, including mastocytosis, rise many problems in clinical practice, mainly due to limited medical information and low attention from health care givers. Misdiagnosis of mastocytosis is frequent, mainly due to low prevalence, versatile clinical picture, addressability to many specialists and confusion with various types of allergies. Beside delayed diagnosis, patients with mastocytosis face expensive investigations, unavailable treatment options, risk of complications and impaired quality of life. The aim of this paper is to evaluate the actual situation of mastocytosis patients in Romania, difficulties in diagnosis and management and main activities of patients' associations. Patients' associations have an important role in improving health assistance of rare diseases, such as mastocytosis, mainly in countries with less developed health system and when interdisciplinary approach is needed. We also aimed to point out patients' needs and expectations from medical staff and health authorities and to make a step forward to improved medical assistance of this rare disease, according to actual standards in European countries.

scholarly journals Rare Diseases of the Anterior Segment of the Eye: Update on Diagnosis and Management

2015 ◽  
Vol 2015 ◽  
pp. 1-2 ◽  
Author(s):  
Alessandro Lambiase ◽  
Flavio Mantelli ◽  
Marta Sacchetti ◽  
Siavash Rahimi ◽  
Giacomina Massaro-Giordano
Keyword(s):  
Rare Diseases ◽  
Anterior Segment ◽  
Diagnosis And Management

Role of the allergist in diagnosis and management of patients with uveitis

JAMA ◽  
1966 ◽  
Vol 195 (3) ◽  
pp. 167-172 ◽  
Author(s):  
T. E. Van Metre
Keyword(s):  
Diagnosis And Management

The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

2019 ◽  
Vol 3 (1) ◽  
pp. 97-105
Author(s):  
Mary Zuccato ◽  
Dustin Shilling ◽  
David C. Fajgenbaum
Keyword(s):  
Rare Diseases ◽  
Treatment Options ◽  
Castleman Disease ◽  
High Impact ◽  
Collaborative Network ◽  
Network Approach ◽  
Grant Applications ◽  
Research Questions ◽  
Novel Strategy ◽  
Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

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