Other Rare Diseases: Archives News of the month
Ten tips for managing complement-mediated thrombotic microangiopathies (formerly atypical hemolytic uremic syndrome): narrative review
Other Rare Diseases 4 min.
Thrombotic microangiopathies (TMA) are a group of clinical disorders characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and multisystem organ damage. These conditions encompass various entities, such as thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome...
Acute neuromyelitis optica spectrum disorder patients’ clinical analysis of disability-related biomarkers
Other Rare Diseases 5 min.
NMOSD is a rare yet severe chronic neuroinflammatory disorder characterized by inflammation primarily impacting the optic nerves and spinal cord, resulting in significant consequences such as vision loss, as well as motor and sensory impairments [1]. Epidemiological data shows that the annual incidence...
Clinical and genetic aspects of Bardet–Biedl syndrome in adults in Norway
Other Rare Diseases 8 min.
Bardet-Biedl syndrome (BBS) (OMIM: PS209900) is a nonmotile ciliopathy disorder caused by pathogenic variants in at least 27 different genes [1, 2, 3, 4–5]. High genetic heterogeneity gives rise to a wide range of clinical manifestations (i.e., signs and symptoms) that affect different body systems....
Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria
Other Rare Diseases 6 min.
Phenylketonuria (PKU), a rare inherited metabolic disorder, disrupts the conversion of the amino acid phenylalanine (Phe). This dysfunction elevates Phe levels in the blood and brain, causing severe intellectual disabilities if dietary management during childhood is inadequate or insufficiently stringent....
Plasma DNA Methylation‐Based Biomarkers for MPNST Detection in Patients With Neurofibromatosis Type 1
Other Rare Diseases 6 min.
Neurofibromatosis 1 (NF1) entails a constellation of clinical manifestations, including the proliferation of neural tissues that leads to both benign and malignant tumors. In 8%–6% of individuals with NF1, some benign neurofibromas progress to become malignant peripheral nerve sheath tumors (MPNSTs)....
