The extracellular volume on cardiac MRI was markedly higher in patients with PyPn-negative ATTR-CM compared to controls. The extracellular volume derived from cardiac magnetic resonance imaging (MRI) ...

The levels of NT-proBNP, left ventricular mass index, maximal wall thickness, and E/E′ ratio were higher in patients with worse neurological stages compared to those in the early neurological stages ...

Thoracolumbar kyphosis angle improved across age groups, with fewer children treated with vosoritide exceeding 20° at week 52 (33% vs 57%). Vosoritide, a C-type natriuretic peptide analog that ...

The Nakanuma bile duct loss score may be an important indicator for the prognosis of PBC in the early stages of the disease, a study found.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

The Stride Velocity 95th Centile (SV95C) showed sensitivity to a decline in the ability to walk over short intervals in patients with Duchenne muscular dystrophy (DMD), according to a new study ...

In CIDP, SOC therapies (immunoglobulins/corticosteroids) are burdensome, have variable efficacy, and significant side-effects. Two phase 3 clinical trials, MOBILIZE ...

Immunohistochemistry can identify concomitant SM in acute myeloid leukemia, leading to better risk stratification and management. The most common forms of AML in pediatric patients are those ...

This unique case underscores the importance of meticulous prenatal and postnatal immunologic workup when alloimmune conditions are suspected. A 37-year-old multiparous woman with RhD alloimmunization ...

Approximately 42% of patients showed evidence of SMN1 to SMN2 conversion, confirmed by the presence of SMN1-specific variants downstream of SMN2. To shed more light on the genetic determinants of SMA ...

Jerry Lewis, one of the most famous comedians of the 20th century, was a tireless advocate for people with muscular dystrophy. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews ...

Obeticholic acid, seladelpar, and elafibranor all significantly increased the biochemical response rate. Elafibranor seems to be slightly more effective than seladelpar as a second-line therapy in ...