The journal Biopreservation and Biobanking has published an article about the polish biobanking network. In Poland storage of human biological samples takes place at most universities and scientific institutions conducting research projects in the field of biomedicine. The First International Biobanking Conference organized by the Ministry of Science and Higher Education in 2014 shed a light on the situation of Polish biobanking infrastructures. The full-text article you can find here.
The journal Current Gene Therapy has published an article about gene therapy for Fanconi Anemia. Allogeneic hematopoietic stem cell transplant is the only curative treatment for patients with the non-malignant bone marrow failure syndrome called Fanconi anemia (FA). However, early and late complications associated with this approach underscore the need for alternative treatments. The full-text article you can find here.
The journal Journal of Medical Internet Research has published a study about rare diseases on the Internet. The importance of the Internet as a medium for publishing and sharing health and medical information has increased considerably during the last decade. The aim of this study is to assess the quality of information on the Internet about rare diseases. A total of 13 quality criteria for websites providing medical information about rare diseases were transferred to a self-disclosure questionnaire. The journal identified 693 websites containing information about rare diseases. A total of 123 questionnaires (17.7%) were completely filled out by the information suppliers. Overall, the quality of information on the Internet about rare diseases is low. The full-text study you can find here.
The journal Plos One has published an article about the clinical practice guidelines for rare diseases. Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs. The full-text article you can find here.
The journal Bioinformatics has published an article about PRINCESS. PRINCESS is a privacy-preserving international collaboration framework for analyzing rare disease genetic data that are distributed across different continents. To demonstrate PRINCESS’ performance and feasibility, the journal conducted a family-based allelic association study for Kawasaki Disease, with data hosted in three different continents. The full-text article you can read here.
The journal Advances in Orthopedics has published an article about Marfan syndrome. Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. The full-text article you can read here.
Тhe journal Seminars in Oncology has published an article about Multiple myeloma. Multiple myeloma (MM), although a rare disease, is the second most common hematologic malignancy. It is found in the spectrum of plasma cell dyscrasias, which begins with monoclonal gammopathy of unknown significance (MGUS) to overt plasma cell leukemia and extramedullary myeloma. MM is associated with significant morbidity due to its end-organ destruction. The full-text article you can find here.
The journal European Journal of Human Genetics has published an article about the impact of returning personal results from whole-genome sequencing. Providing ostensibly healthy individuals with personal results from whole-genome sequencing could lead to improved health and well-being via enhanced disease risk prediction, prevention, and diagnosis, but also poses practical and ethical challenges. Understanding how individuals react psychologically and behaviourally will be key in assessing the potential utility of personal whole-genome sequencing. The full-text article you can find here.
The journal Medicine has published a report about Von Hippel-Lindau disease. Von Hippel-Lindau (VHL) disease is a rare inherited, autosomal-dominant syndrome caused by heterozygous germline mutations in the VHL gene. The journal has reported a 38-year-old woman with a ten-year history of VHL disease involving both pancreas and biliary system. The diagnosis was established via computed tomography scan and was confirmed by genetic testing. The full-text report you can find here.
The journal Journal of Neonatal Surgery has published an article about chylous ascites in a newborn with gastroschisis. Chylous ascites is a rare disease with only two cases associated with gastroschisis have been published. The journal has reported a case treated conservatively with total parenteral nutrition (TPN) and octreotide and reviewed the literature about management options for the chylous ascites. The full-text article you can find