The journal Frontiers in Neurology has published an article about dystonia syndromes. Dystonia belongs to a group of rare diseases (RDs) characterized by etiologic heterogeneity, affection often in childhood, severe and variable clinical manifestation. The burden of this disease is aggravated by the lack of effective and specific treatment. In the field of dystonia as in other RDs the number of available biospecimens is, in general, limited. The full-text article you can find here.
The journal Clinical Genetics has published an article about disorders of sex development. Disorders of sex development (DSD), are a group of rare congenital conditions. Unlike 46, XX DSD where the cause is usually clear, identification of a cause of XY DSD is often unclear and may be attributed to a disorder of gonadal development, androgen synthesis or androgen action. Reaching a firm diagnosis is challenging and requires expertise within a framework that abides by the highest standards of clinical care. The full-text article you can find тук.
The journal Scientific Reports has published a report about retinitis pigmentosa. Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder. The full-text report you can find here.
The journal American Journal of Medical Genetics Part A has published an article about Fragile X syndrome. Described as the commonest single gene cause of learning disability internationally, the incidence of Fragile X syndrome (FXS) has never previously been determined in Ireland. The aim of this work was to determine the observed incidence of FXS in the island of Ireland; the Republic of Ireland (ROI) and Northern Ireland (NI) separately and combined. The full-text article you can find here.
The journal American Journal of Human Genetics has published an article about undiagnosed diseases. Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an element of the concept of precision in medicine, requires new infrastructure that spans geography, institutional boundaries, and the divide between clinical care and research. The full-text article you can find here.
The journal PLoS One has published an article spinal muscular atrophy. Although functional rating scales are being used increasingly as primary outcome measures in spinal muscular atrophy (SMA), sensitive and objective assessment of early-stage disease progression and drug efficacy remains challenging. The authors have developed a game based on the Microsoft Kinect sensor, specifically designed to measure active upper limb movement. The full-text article you can find here
The journal Medicine Clinica has published an article about acquired haemophilia. The development of circulating autoantibodies able to inhibit some coagulation proteins induces severe or even life-threatening bleeding. This disorder is called acquired haemophilia. This is a rare disease, although its impact may be underestimated because of the lack of records, the lack of knowledge by many specialists, the complexity of the laboratory diagnosis and, finally, because of the fulminant clinical presentation that often precludes diagnosis. The full-text article you can find тук.
The journal Journal of Allergy Asthma and Clinical Immunology has published a study about hereditary angioedema. Hereditary angioedema (HAE) is a rare but serious condition characterized by recurrent spontaneous attacks of angioedema affecting superficial tissues of upper respiratory and gastrointestinal tracts. To assess the health-related quality of life of Canadian patients with HAE using the 36-item Short-Form Health Survey. Twenty-one patients living in Canada over age 18 with known diagnosis of hereditary angioedema due to C1-INH deficiency (HAE), completed the SF-36v2 (generic HRQoL questionnaire). The SF-36v2 showed a significant reduction in general health (p = 0.0063) in patients with HAE when compared with healthy Canadians. This study of Canadian patients with HAE shows that General Health is most frequently affected followed by Bodily Pain and Vitality, as measured by SF-36v2. The SF-36v2 offers valuable insight to assess quality of life in patients with HAE, however a larger number of Canadian patients and specific tools for assessment are needed for better evaluation. The full-text study you can find here.
The journal Professional Case Management has published an article about integrated transitions of care for patients with rare pulmonary diseases. Many continuing education (CE) resources are available to support case management professionals in developing competencies in transitions of care (TOC) that apply generally across disease areas. However, CE programs and tools are lacking for advanced TOC competencies in specific disease areas. This article describes 2 projects in which leading TOC, case management, and CE organizations collaborated to develop CE-accredited interdisciplinary pathways for promoting safe and effective TOC for patients with rare pulmonary diseases, including pulmonary arterial hypertension (PAH) and idiopathic pulmonary fibrosis (IPF). The full-text article you can find here.
The journal Journal of Shoulder and Elbow Surgery has published a report about Charcot arthropathy of the shoulder and elbow. Charcot arthropathy of the shoulder and elbow is a rare disease process initially described in the 1700s; however, it was not until the 19th century that physicians understood its association with other disease processes such as cervical spine pathology and diabetes. A primary complaint is painful or painless joint dysfunction, meaning the orthopedic surgeon is regularly the first physician to evaluate the patient. Frequently, the condition of these patients is misdiagnosed. The full-text article you can find here.