The journal Current Problems in Cancer has published an article about аmyloidosis. Amyloidosis is a disease characterized by abnormal deposition of aggregated interstitial fibrils of amyloid protein in any organ of the human body, resulting in compromised organ function leading to a potentially fatal outcome. The most common type, systemic light-chain amyloidosis, amyloid light-chain (AL) amyloidosis, is a disorder due to clonal plasma cell dyscrasia. The full-text article you can find here.
The journal Molecular Genetics and Metabolism has published an article about Niemann-Pick disease Type C. Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progressive neurovisceral symptomatology. Typically, disease progression is more pronounced in patients with early onset of neurological symptoms. Heterogeneous clinical presentation may hinder disease recognition and lead to delays in diagnosis. The full-text article you can find here.
The journal Pilot and Feasibility Studies has published a study about the treatment of HTVL-1-associated myelopathy. To advance the treatment of HTVL-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), randomized controlled therapeutic studies with appropriate and sensitive outcome are reuired. Data on 10MWT from 76 patients with HAM/TSP were prospectively collected from four specialist centres in Brazil, Japan, USA and UK. Baseline mean (standard deviation= SD), median 10MWT were 23.5 (18.9), 16.3 s/ 10 m and at 6 months 24.9 (23.9), 16.4 s/ 10 m. The mean (SD) % increase in walk time was 5.74% (28.2%). The intra-patient variability of 10MWT is relatively small in HAM/TSP over 6 months. The full-text study you can find here.
The journal EPMA has published an article about biomarkers in rare diseases. There are more than 8000 rare diseases that affect >5% of the world’s population. Many of the RDs have no effective treatment and lack the knowledge creates delayed diagnosis making management difficult. The emerging concept of the personalized medicine allows for early screening, diagnosis, and individualized treatment of human diseases. In this context, the discovery of biomarkers in RDs will be of prime importance to enable timely prevention and effective treatment. The full-text of the article you can find here.
The journal Clinical Case Report has published an article about computed tomography anomalies. Hypocalcemia due to chronic hupoparathyroidism presents with nonspecific symptoms. However, it untreated, hypocalcemia may affect neurological, cognitive, muscular, and cardiac function. Computed tomography (CT) findings may confirm a diagnosis of chronic hypoparathyroidism. The full-text article you can find here.
The journal Bone has published an article about osteosarcoma. Osteosarcoma is the predominant form of bone cancer, affecting mostly adolescents. Recent progress made in molecular genetic studies of osteosarcoma has changed our view on the cause of the disease and ongoing therapeutic approaches for patients. As we draw closer to gaining more complete catalogs of candidate cancer driver genes in common forms of cancer, the landscape of somatic mutations in osteosarcoma is emerging from its first phase. The full-text article you can find here.
The journal Intractable & Rare Diseases Research has published an article about the compassionate use programs. The past decade witnessed rapid development of novel drugs and therapeutic biological agents. The marketing authorization for novel therapies is often time consuming and distressing for patients. Earlier clinical trials were the only way to access new drugs under development. However, not every patient meets the enrolment criteria, and participation is difficult for patients with life-threatening, long-lasting or seriously debilitating diseases like rare diseases. The full-text article you can find here.
On 15 December 2016 the European Reference Network Board of Member States approved all 23 ERNs. The next round of approvals, for the second wave of the 2016 call for interest to become a ERN, should follow in February. For more information, please visit here.
The journal Gastroenterology Research has published an article about Wilson’s Disease and Ulcerative Colitis. Ulcerative Colitis (UC) is a chronic relapsing inflammatory bowel disease (IBD). Wilson’s disease (WD) is a disorder of copper (Cu) metabolism due to inherited mutations in a gene encoding a putative Cu-transporting P-type ATPase, with a heterogeneous clinical presentation that includes hepatic, neurological, or psychiatric symptoms. The case of a 17-year-old female that presented with severe liver failure, three years after UC onset, and in which diagnosis of WD was established is reported. The journal reviews the literature and discuss the possible association between the two rare diseases. The full-text article you can find here.
The journal Acta Otorhinolaryngologica Italica has published an article about childhood neurofibromatosis type 2. Neurofibromatosis type 2 is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. The full-text article you can find here.