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 ...

Recurrent cutaneous swelling, which was the most commonly reported symptom, occurred in all 22 of the study participants who underwent evaluation. Our global understanding of hereditary angioedema ...

The potential of vitamin D as an add-on therapy lies in its immunomodulatory effect on T cell-mediated and humoral immune responses, complement activation, cytokines, and inflammasomes. Vitamin D ...

In this episode of the Rare Care podcast, Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kfir Oved, PhD, about the latest Israeli research on myasthenia gravis (MG). Dr. Oved ...

Two patients carried the c.1620C>G mutation associated with hypochondroplasia, underscoring the need for confirmatory genetic testing. Accurate genetic evaluation is essential for confirming ...

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 ...

Patients who had a poor outcome had a higher GLOBE score and UK-PBC risk score compared to patients with good outcomes after 1 year of treatment with fenofibrate add-on therapy. The GLOBE and UK-PBC ...

Findings from inverse variance weighting analysis showed that the presence of hypothyroidism might increase an individual’s risk for PAH (OR, 1.485; 95% CI, 1.051-2.100; P = .025). The presence of ...

Whole-genome resequencing used to assess ATP7B genotypes found a higher frequency of impaired finger tapping in patients carrying the p.P992L mutation. A variety of sociodemographic factors were found ...

Nomlabofusp treatment stopped the progression of cardiac dysfunction and significantly increased the survival of a mouse model of Friedreich ataxia. Exposure to nomlabofusp increases the levels of ...