The journal Endocrine-Related Cancer has published a review of male breast cancer. Male breast cancer is a rare disease, of which little is known. In contrast to female breast cancer, the very vast majority of all cases are positive for Estrogen Receptor alpha (ERα), implicating the function of this steroid hormone receptor in tumor development and progression. The full-text review you can find here.
The journal Hemophilia: The Official Journal of the World Federation of Hemophilia has published an article about measuring the quality of haemophilia care across different settings. Haemophilia is a rare disease for which quality of care varies around the world. The guiding criteria for selection of possible indicators were ease of calculation and direct applicability to a wide range of countries with basic data collection capacities. The full-text article you can find here.
The journal Journal of Korean Medical Science has published an article about genotype and phenotype analysis in pediatric patients with cystinuria. Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. The full-text article you can find here.
The journal European Journal of Medical Genetics has published an article about EUCERD Joint Action. Joint Actions are successful initiatives from the European Commission (EC) that have helped to raise awareness and to bring significant benefit to those suffering from a rare disease (RD). In this paper, the journal will focus on the activities developed by the EUCERD Joint Action (EJA) and by the Orphanet Joint Action (“Orphanet Europe”). The full-text article you can read here.
The journal Acta Orthopaedica et Traumatologica Turcica has published an article about acro-osteolysis. Acro-osteolysis is a rare disease characterized by bone resorption involving the distal phalanges of the hand. The journal presents a unique case of progressive acro-osteolysis of the distal phalanges and articular calcifications in a patient with scleroderma. The full-text article you can find here.
The journal The Patient has published a review about еstablish support groups in rare diseases. Support groups are an important resource for many people living with rare diseases. CINAHL and PubMed have searched for publications that described the benefits or perceived benefits of participating in rare disease support groups or the barriers and facilitators of establishing and maintaining them were eligible for inclusion, from January 2000 to August 2015, with no language restrictions. Ten publications were included in the scoping review. There was no trial evidence on support group benefits. All ten publications reported on the perceived benefits of participating in rare disease support groups. Rare disease support groups are an important source of emotional and practical support for many patients. The full-text review you can find here.
The journal European Journal of Public Health has published a study about autism spectrum disorders according to immigrant status. Autism spectrum disorders (ASDs), once considered to be rare, are now reaching prevalence estimates of 1% and higher. A comprehensive literature search was undertaken for original articles reporting on prevalence and risk for ASD in Europe among immigrants and ethnic minorities and data across studies were compared. Seventeen studies conducted in Europe concerning immigrants and ethnic minorities were found. After analysing the results of studies conducted in Europe, it is unclear if higher prevalence estimates of ASDs among immigrants in this region reflect true differences, especially considering many potential confounding factors, e.g. genetic, biological, environmental and cultural. The full-text study you can find here.
The journal Kidney International has published an article about Gitelman syndrome. Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). The full-text article you can read here..
The journal Rare Diseases and Orphan Drugs has published an article about the rare diseases in Bulgaria. Defining and setting a rare disease inventory is a fundamental part of rare disease policy. This tool is of a paramount importance, as it greatly affects the knowledge and awareness of rare diseases not only among health care practitioners, but among all rare disease stakeholders. An official list of rare diseases is particularly beneficial now in the context of the European reference networks for rare diseases, generating added value at both international and local levels. For full-text article click here.
From June 7th to June 9th 2017 will be held 5th Rare Diseases Summer School organized
by radiz – Rare Disease Initiative Zurich in the Tagungszentrum Schloss Au, Wädenswil (on lake Zurich). The summer school will contain lectures by national and international rare disease experts, workshops, and poster presentations by participants. For more information please visit here.