The Journal of Spine Surgery has published a review about Osteogenesis imperfecta (OI). OI is a kind of heritable connective tissue disorder, including blue sclerae, hearing loss, skeletal dysplasia causing bone fragility and deformities. It is typically caused by collagen related gene mutations, which could lead to bone formation abnormalities. Scoliosis is one of the most common and severe spinal phenotype which has been reported in approximately 26-74.5% of all OI patients. Recent breakthroughs have suggested that OI can be divided into more than 16 types based on genetic mutations with different degrees of scoliosis. In this review, the authors summarize the etiology of scoliosis in OI, especially the genetic studies of different types. The full-text review you can find here.
The journal The Clinical Respiratory Journal has published an article about Pulmonary arterial hypertension (PAH). PAH and chronic thromboembolic pulmonary hypertension (CTEPH) are rare diseases with a gradual decline in physical health. Adherence to treatment is crucial in these very symptomatic and life threatening diseases. The aim of the article is to describe PAH and CTEPH patients experience of their self-reported medication adherence, beliefs about medicines and information about treatment. The full-text article you can find here.
The journal Neuromuscular Disease: NMD published a report about spinal muscular atrophy (SMA). SMA is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here the authors report a two-part update of the topics covered in the previous recommendations. In part 1 the authors present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2. The full-text report you can find here.
The journal Journal of Clinical Pathology has published an article about lysosomal acid lipase deficiency (LALD). LALD is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases is unclear. The full-text article you can find here.
The journal Surgical Pathology Clinics has published an article about Hereditary gastric cancer. Hereditary gastric cancer is a relatively rare disease with specific clinical and histopathologic characteristics. Hereditary gastric cancer of the diffuse type is predominantly caused by germline mutations in CDH1. The inherited cause of familial intestinal gastric cancer is unknown. The full-text article you can find here.
The journal “The Journal of Allergy and Clinical Immunology in Practice” has published a study about hereditary angioedema. Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent. The aim of the study is to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations. The authors evaluated a group of 195 individuals, which included 102 patients clinically diagnosed with FXII-HAE and their 93 asymptomatic relatives. Genetic analysis revealed that of the 195 subjects, 134 individuals (77.6% females) carried a pathogenic mutation in F12. The T328K substitution was found in 132 individuals, and the c.971_1018+24del72 deletion was found in 2 patients. The study included a large number of patients with FXII-HAE, and, as the first such study conducted in a South American population, it highlighted significant differences between this and other study populations. The high number of symptomatic males and patients with estrogen-independent FXII-HAE found here suggests that male sex and the absence of a hormonal influence should not discourage clinicians from searching for F12 mutations in cases of HAE with normal C1-INH. The full-text article you can find here.
From 20 November 2017, the Clinical Patient Management System (CPMS), the ERN software for data sharing and virtual panels, started functioning. This follows the opinion received by the European Data Protection Supervisor (EDPS) on the compliance with EU data protection rules. The 24 ERNs can therefore start using the system to treat and diagnose patients suffering from rare, low prevalence and complex diseases and will now fully develop their potential to offer patients and doctors access to the best expertise and timely exchange of life-saving knowledge. They are set to become a clear demonstration of what solidarity among the health systems of the Member States can do for the people living in Europe! For more information click here.
The book “Contemporary Aspects of Some Rare Syndromes, Diseases and Anomalies Affecting the Eyes” by Assoc. Prof. Krasimir Tsonev Koev, PhD, is the first of its kind in Bulgaria. The author has succeeded to select and assemble the available and up-to-date information for 50 rare syndromes, diseases and anomalies affecting the eyes. The description of each disease in the book is well structured and includes definition, etiology, epidemiological data, ocular manifestations, diagnostic criteria, treatment, and references. Thus, the book of Prof. Krassimir Koev becomes an extremely valuable source of information not only for the specialists in ophthalmology, but also for doctors from other specialties – pediatricians, neurologists, maxillofacial surgeons, neurosurgeons, dentists, geneticists, general practitioners etc. The medical professionals in Bulgaria will be able to improve their knowledge and the possibility of early diagnosis of both rare eye syndromes and abnormalities as well as other rare diseases with eye symptoms.
The journal Expert Review of Pharmacoeconomics & Outcomes Research has published an article about the transposition and implementation of EU rare disease policy in Eastern Europe. А series of European Union (EU) political decisions have made rare diseases one of the cornerstones of the common European health policy. Adopted in 2009, Council Recommendation on an action in the field of rare diseases aimed to serve as a policy-making guideline. A 10-indicator set was elaborated to structure the review and to describe rare disease activities in 14 Eastern European countries. The full-text article you can find here.