A national survey among 242 pediatricians in Australia reveals the experience with children with rare diseases. As the most common problems in the care of these patients, pediatricians determine the delay in diagnosis (65%), the lack of accessible treatments (40%) and the lack of clinical guidelines (36%). Respondents pay attention to the creation of reference portals and educational modules for rare diseases. More research results can be found here.
On 21-22 April 2018, the National Alliance of People with Rare Diseases will organize a training seminar on “Self-support to improve the quality of life of people with rare diseases and their families”. The event will be held at the “Rusalka” Hotel, Plovdiv. Speakers at the forum will be Dr. Radostina Simeonova, Dr. Todor Stoev, Dr. Margarita Zafarova and Mr. Milen Antonov. For more information, please download the program of the training seminar.
Behçet’s disease (BD) is a rare systemic vasculitis characterized by aphthous mouth ulcers, genital ulcers, ocular lesions and other systemic manifestations. The causes of BD are unknown, but it is believed that the disease is basically due to an autoimmune process induced by an infectious or environmental agent in a genetically predisposed individual. The most potent risk factor for BD is the HLA-B51 allele located in the MHC locus on the chromosome 6p. More information on unlocking factors, histology, diagnosis and treatment of BD can be found here.
The German Paediatric Surveillance Unit (ESPED) was founded in 1992 to generate incidence data and detailed clinical descriptions of rare, childhood-onset diseases. Between 1992 and 2017 ESPED completed 96 prospective studies on rare diseases in children. The 3 most frequent clinical entities were: Infectious/communicable disease (n=30), neurological diseases (n = 14) and hematologic diseases (n=10). You can find more on ESPED here.
The Journal of Rare Disorders: Diagnosis and Therapy has published an article about Pseudohypoparathyroidism. PHP is a rare inherited disease. In it, the secretion of parathyroid hormone parathormone is normal. An abnormality is detected at the receptors. Most often the disease occurs in childhood with manifestation after three years of age. There are three known types as the first type (PHP1B) is the most common type. Symptoms are characterized by low height, obesity, low levels of calcium and phosphorus in the blood, short neck, rounded face, limb ankles. Subcutaneous calcifications are observed. Аn extended article about Pseudohypoparathyroidism, calcification of soft tissue and description of clinical cases can be found here.
On 8th-10th of September 2017 in Grand Hotel Plovdiv was held 12th Balkan Congress of Human Genetics and 8th National Conference for Rare Diseases. The newest achievements in the field of dysmorphology, reproductive, prenatal, cancer and neurogenetics, also innovations and trends in personalized and genomic medicine were represented. Highlights also included the current development in technologies and their application in daily medicine. Book of presentations and posters can be downloaded here.
This newsletter links you to summaries of progress and early findings, where these are available, covering investigations into: the prevalence of autism and its costs; early detection and improved training; effective support for autistic adults and senior citizens; and the development of EU-wide policies on autism. Click here to read the newsletter.
The journal Advances in Experimental Medicine and Biology has published an article about bridging the gap between health and social care for rare diseases. Bridging the gaps between health and social care for rare diseases is not only necessary but crucial to increase the life expectancy, quality of life and autonomy of people living with a rare disease, supporting them in the full realisation of their fundamental human rights.The complexity of rare diseases, their strong relation to disability and the current unmet social and daily life needs of people living with a rare disease must not be underestimated and require urgent attention from all stakeholders involved in care provision, from healthcare to social and community services. The full-text article you can find here.
The journal Advances in Experimental Medicine and Biology has published an article about Immunological Rare Diseases. The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Due to the enormous number of different rare immunological diseases, in this chapter the authors are going to analyse some of them that can be considered paradigmatic of the various expressions of disease.Тhe full-text article you can find here.
Тhe journal Molecular Genetics and Metabolism has published an article about epilepsy in mucopolysaccharidosis disorders. The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. Epileptic seizures are neurological signs of MPS thought to develop due to accumulation of GAGs in the brain, triggering alterations in neuronal connectivity and signaling, and release of inflammatory mediators. This review discusses current knowledge on this topic, as well as two case examples, presented and discussed during a closed meeting on MPS and the brain among an international group of experts with extensive experience in managing and treating MPS. The full-text article you can find here.