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Textbook of Rare Sexual Medicine Conditions
This textbook aims to provide the reader with knowledge and skills on rare sexual medicine conditions. The aim is to increase awareness in healthcare...
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QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia
BackgroundGenomic testing transforms the diagnosis and management of rare conditions. However, uncertainty exists on how to best measure genomic...
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Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey
BackgroundAlthough individually rare, collectively, rare conditions are common and affect a large number of people and are often chronic, life...
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Whole-exome sequencing of individuals from an isolated population under extreme conditions implicates rare risk variants of schizophrenia
Schizophrenia (SCZ), which affects approximately 1% of the world’s population, is a global public health concern. It is generally considered that the...
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The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita
BackgroundArthrogryposis multiplex congenita (AMC) is a group of rare musculoskeletal conditions that is associated with complex healthcare needs and...
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Rare neurodevelopmental conditions and parents’ mental health – how and when does genetic diagnosis matter?
BackgroundParents of individuals with rare neurodevelopmental conditions and intellectual disabilities (ID) are vulnerable to mental health...
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Develo** a taxonomy of care coordination for people living with rare conditions: a qualitative study
BackgroundImproving care coordination is particularly important for individuals with rare conditions (who may experience multiple inputs into their...
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The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review
BackgroundThe patient voice is becoming increasingly prominent across all stages of therapeutic innovation. It pervades research domains from funding...
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Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
BackgroundRett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures....
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Development of models of care coordination for rare conditions: a qualitative study
IntroductionImproving care coordination for people with rare conditions may help to reduce burden on patients and carers and improve the care that...
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A comprehensive study of the rare diseases and conditions targeted by orphan drug designations and approvals over the forty years of the Orphan Drug Act
BackgroundRare diseases affect more than 30 million Americans. The passage of the Orphan Drug Act (ODA) in the United States in 1983 represented a...
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Stakeholder engagement in the development of an upper extremity outcome measure for children with rare musculoskeletal conditions
BackgroundUpper extremity (UE) involvement is prevalent in 73% of individuals with arthrogryposis multiplex congenita (AMC), yet no AMC-specific...
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Next-generation sequencing and bioinformatics in rare movement disorders
The ability to sequence entire exomes and genomes has revolutionized molecular testing in rare movement disorders, and genomic sequencing is becoming...
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Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
BackgroundUnderstanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of...
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Isolated rheumatic tricuspid valve regurgitation: it is only rare not just a myth: rare case report
BackgroundIsolated rheumatic tricuspid regurgitation (IRTR) is a rare condition that can manifest as right heart failure (RHF) and pulmonary...
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Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases
BackgroundChallenges faced by children diagnosed with a rare disease or complex condition and their family members are often characterized by...
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Frequency-based rare diagnoses as a novel and accessible approach for studying rare diseases in large datasets: a cross-sectional study
BackgroundUp to 8% of the general population have a rare disease, however, for lack of ICD-10 codes for many rare diseases, this population cannot be...
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Maxillary Osteomyelitis Post-Dengue: A Rare Clinical Phenomenon
Maxillary osteomyelitis following dengue infection, unaccompanied by additional comorbidities, is a rare but significant clinical entity. We present...
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Rare Case of Laryngeal Histoplasmosis: A Diagnostic Challenge
Granulomatous lesions, though rare, can affect diverse body regions, including the larynx, presenting diagnostic challenges. In India, where...
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Cornual invasive hydatidiform mole: a rare case report and literature review
BackgroundThe cornual pregnancy is a rare condition of ectopic pregnancies. Invasive hydatidiform mole is a rare form of gestational trophoblastic...
