Rare Disease Advisor

1 week ago | rarediseaseadvisor.com | Ed Tobias

The times they may be ‘a-changin’ when it comes to treating older people with multiple sclerosis—people like me. For years it’s seemed as if many neurologists were being guided by a 2017 review by University of British Columbia researchers reporting that disease activity declines as people with MS grow older.

1 week ago | rarediseaseadvisor.com | Ryner Lai

Physical activity before or during pregnancy was not associated with negative maternal/neonatal outcomes; however, physical activity was not statistically significantly associated with positive outcomes either. These findings, published in Frontiers in Medicine, report that maternal/neonatal health is of particular importance among already vulnerable patient populations, such as those with hemolytic disease of the fetus and newborn (HDFN).

1 week ago | rarediseaseadvisor.com | Ryner Lai

A patient with KIT-C-negative systemic mastocytosis (SM) initially presented with severe anemia alongside intraosseous-intramuscular hemorrhage in a case report recently published in Cureus. Atypical presentations in SM can result in diagnostic delays, complicating management. This case study demonstrates the importance of maintaining a high index of clinical suspicion in patients who present with unexplained cytopenia and bleeding.

1 week ago | rarediseaseadvisor.com | Ryner Lai

Neuromyelitis optica spectrum disorder (NMOSD) is an immune-mediated disease that is often characterized by myelitis attacks. It is generally accepted that early detection and diagnosis is key, and that the early initiation of medical intervention can improve long-term outcomes. The relationship between the time to treatment and prognosis is highlighted in a study published in Brain and Behavior by Zhou and colleagues.

1 week ago | rarediseaseadvisor.com | Ryner Lai

The researchers presented the case report of a patient who had leprosy neuropathy that was initially misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP). This case report is unique in that physicians had mistaken a very rare disease for another. A 72-year-old female patient had a 2-year history of generalized pruritus, as well as several months of erythematous cutaneous lesions and articulatory inflammation primarily affecting her lower limbs.