The journal Prague Medical Report has published an article about Budd-Chiari Syndrome. Budd-Chiari syndrome (BCS) is a rare disease with an incidence of 0.1 to 10 per million inhabitants a year caused by impaired venous outflow from the liver mostly at the level of hepatic veins and inferior vena cava. Etiological factors include hypercoagulable conditions, myeloprolipherative diseases, anatomical variability of the inferior vena cava, and environmental conditions. The full-text article you can find here.
The journal Mymensingh Medical Journal has published an article about Addison’s disease. Adrenal insufficiency is a rare disease, but is life threatening when overlooked. Addison’s disease may be an acquired form of adrenal insufficiency due to the destruction or dysfunction of the adrenal cortex. The full-text article you can read here.
The journal Kidney International has published an article about atypical hemolytic uremic syndrome. Pregnancy-associated atypical hemolytic uremic syndrome (aHUS) refers to the thrombotic microangiopathy resulting from uncontrolled complement activation during pregnancy or the postpartum period. Pregnancy-associated aHUS is a devastating disease for which there is a limited clinical understanding and treatment experience. In this article the authors report a retrospective study to analyze the clinical and prognostic data of 22 cases of pregnancy-associated aHUS from the Spanish aHUS Registry under different treatments. The full-text article you can find here.
The journal Diseases has published an article about Lysosomal storage disorders (LSDs). LSDs are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased frequency of polyclonal and monoclonal gammopathy among patients with GD. The full-text article you can find here.
The journal European Respiratory Review has published an article about Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH). LAM and PLCH are rare diseases that lead to progressive cystic destruction of the lungs. Despite their distinctive characteristics, these diseases share several features. In this review, the recent advances in the understanding of the molecular pathogenesis, as well as the current and most promising biomarkers and therapeutic approaches, are described. The full-text article you can read here.
The journal Expert Review of Pharmacoeconomics & Outcomes Research has published an article about the transposition and implementation of EU rare disease policy in Eastern Europe. А series of European Union (EU) political decisions have made rare diseases one of the cornerstones of the common European health policy. Adopted in 2009, Council Recommendation on an action in the field of rare diseases aimed to serve as a policy-making guideline. A 10-indicator set was elaborated to structure the review and to describe rare disease activities in 14 Eastern European countries. The full-text article you can find here.
The journal Molecular Genetics and Metabolism has published an article about Gaucher disease (GD). GD is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience marked delays in obtaining a definitive diagnosis. The full-text article you can find here.
The journal Acta Medica Lituanicahas published an article about neuroblastoma (NB). NB is the most common extracranial solid tumour in children. This is a very rare disease with heterogeneous biology varying from complete spontaneous regression to a highly aggressive tumour responsible for 15% of malignancy-related death in early childhood. The full-text article you can find here.
The journal Molecular Genetics and Metabolism Reports has published an article about lysosomal diseases (LD) LD comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations. The estimated combined incidence of LD is between 1 in 4000 to 1 in 13,000 live births, with recent data from pilot newborn screening studies showing even higher incidence. The full-text article you can read here.
The journal Cardiology in Review has published an article about chronic thromboembolic pulmonary hypertension (CTEPH). CTEPH , classified as WHO group 4 pulmonary hypertension (PH), is an interesting and rare pulmonary vascular disorder secondary to mechanical obstruction of the pulmonary vasculature from thromboembolism resulting in PH. The pathophysiology is complex, beginning with mechanical obstruction of the pulmonary arteries, which eventually leads to arteriopathic changes and vascular remodeling in the non-occluded arteries and in the distal segments of the occluded arteries mediated by thrombus non-resolution, abnormal angiogenesis, endothelial dysfunction, and various local growth factors. The full-text article you can read here.