The journal Expert Review of Respiratory Medicine has published an article about Primary ciliary dyskinesia (PCD). It’s a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. The full-text article you can find here.
The journal Diagnostics has published an article about creating a registry for patients with Thoracic outlet syndrome. The creation of any patient database requires substantial planning. In the case of thoracic outlet syndrome, which is a rare disease, the Society for Vascular Surgery has defined reporting standards to serve as an outline for the creation of a patient registry. The full-text article you can find here.
The journal European Journal of Pediatrics has published an article about Fabry disease. Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. The full-text article you can find here.
The journal American Journal of Hematology has published an article about iron deficiency across chronic inflammatory conditions. Iron deficiency, even in the absence of anemia, can be debilitating, and exacerbate any underlying chronic disease, leading to increased morbidity and mortality. Iron deficiency is frequently concomitant with chronic inflammatory disease; however, iron deficiency treatment is often overlooked, partially due to the heterogeneity among clinical practice guidelines. The full-text article you can read here.
The journal Expert Reviews of Proteomics has published an article about spinal muscular atrophy (SMA). SMA is a neurodegenerative disorder characterized by alpha motor neuron loss in the spinal cord due to reduced survival motor neuron (SMN) protein level. While the genetic basis of SMA is well described, the specific molecular pathway underlying SMA is still not fully understood. The full-text article you can read here.
The journal Annals of Agricultural and Environmental Medicine has published an article about systemic sclerosis (SSc). SSc is a rare and potentially severe connective tissue disease, characterized by skin fibrosis and involvement of internal organs. Because of its rarity and heterogeneous clinical presentation, reliable epidemiological studies on SSc have been particularly difficult to carry out. The full-text article you can read here.
We are happy to inform you that we have a new feature on our website. Now you can get information regarding the contacts and specialization of all centers of expertise for rare diseases in Bulgaria. For more information plese click here.
On 3-4 June 2017 in Plovdiv will be held a training workshop “Methods for self-support and improving the quality of life of people with rare diseases and their families”. It will be a two day interactive event in Bulgarian language, featuring speakers like Dr. Rada Aleksieva, Dr. Radostina Simeonova, Dr. Dimitrinka Todorova and others. For further information and registration, please contact nae_08@abv.bg or pmilusheva@abv.bg.
The journal European Journal of human Genetics has published an article about Fabry disease. Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. The full-text article you can read here.
The journal Molecular genetics and metabolism has published an article about mucopolysaccharidoses. Sensitive, reliable measurement instruments are critical for the evaluation of disease progression and new treatments that affect the brain in the mucopolysaccharidoses (MPS). MPS I, II, and III have early onset clinical phenotypes that affect the brain during development and result in devastating cognitive decline and ultimately death without treatment. The full-text article you can read here.