Researchers developed a nomogram that can help nurses identify patients with MG who are at high risk of developing myasthenic crisis.

The rs231775 G allele of CTLA4 significantly increased risk for GPA, whereas the rs5742909 T allele appeared protective.

Whole-exome sequencing identified compound heterozygous ATP7B variants in 2 brothers with neonatal cholestasis, allowing a diagnosis of WD.

The association between the reduction in 99mTc-DPD uptake and biomarkers of response to treatment in ATTR-CM is poor, a study found.

Accurate antibody identification is of major clinical and medicolegal importance for managing patients with hemolytic disease of the fetus and newborn (HDFN), as well as for guiding the administration ...

Patient satisfaction and PROMs point to the need for novel CIDP-targeted treatments. Misdiagnoses, diagnostic delays, and persistent disease burden despite adequate treatment remain key challenges in ...

Analyzing alpha-1 antitrypsin genotypes in patients with emphysema can facilitate early diagnosis of AATD.

Patients with CLL have a high burden of cardiovascular comorbidities, and this risk is further increased by certain treatments.

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 ...

This study aims to assess the use of new imaging techniques in understanding cardiac amyloidosis course in ATTR-CM.

Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench ...

Patients with ATTR-PN complicated with severe renal dysfunction appear to respond well to small interfering RNA (siRNA) therapy, a study found.