The Journal of Clinical Immunology has published an article about primary immunodeficiency diseases. Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. The journal sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. The full-text article you can find here.
The journal Melanoma Research has published an article about acral melanoma. Acral melanoma (AM) is associated with a poor prognosis in part because of delayed diagnosis, but probably also because of other intrinsic characteristics of location. The aim of this study was to review the specific characteristics and outcome of AM in Caucasians. The full-text article you can find here.
The journal Brain Behavior has published an article about Klinefelter syndrome. The determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education. The full-text article you can read here.
The journal Anais Brasileiros de Dermatologia has published an article about Gianotti-Crosti syndrome. Gianotti-Crosti syndrome is a rare disease characterized by acral papular eruption with symmetrical distribution. It is a benign and self-limited disease; the symptoms disappear after two to eight weeks, without recurrences or scars. The full-text article here.
The jorunal Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz has published an article about se-atlas. se-atlas – the health service information platform for rare diseases – is part of the German National Action Plan for People with Rare Diseases and is funded by the German Federal Ministry of Health. The objective of se-atlas as a web-based platform is to illustrate those medical care institutions that are linked to rare diseases, in a transparent and user-friendly way. The full-text article you can find here.
The journal Seminars in Pediatric Neurology has published an article about mitochondrial diseases. Mitochondrial diseases exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of adenosine triphosphate, through oxidative phosphorylation. The full-text article you can read here.
The journal Blood Cells, Molecules & Diseases has published an article about type 1 Gaucher disease. Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. The full-text article you can read here.
The journal Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz has published an article about European Reference Networks. Starting in 2017, European Reference Networks (ERNs) for rare disease patients will be established in the European Union. ERNs will pool expertise in clinical centres and will establish cross-border exchange mechanisms in order to facilitate access to diagnosis and care. The full-text article you can read here.
The journal Neuromuscular Disorders has published an article about Duchenne Muscular Dystrophy. Despite all the advances in diagnosis and management of Duchenne muscular dystrophy over the past 50 years, the average age at diagnosis in most countries in the world around is still around 4-5 years. This retrospective article investigates the age at diagnosis in Italy in the past 10 years. The full-text article you can find here.
The jorunal Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz has published an article about the ethical aspects of clinical trials in rare diseases. It is estimated that there are about four million people suffering from rare diseases in Germany. For roughly the last 20 years, there has been an increasing interest in therapeutic research for rare diseases. Drug research is highly regulated via numerous laws, regulations and ethical conventions that do not offer any waivers for clinical trials in rare diseases. The full-text article you can read here.