The immunoglobulin G4/immunoglobulin G (IgG4/IgG) ratio and IgG4 alone are highly accurate in diagnosing IgG4-related disease (IgG4-RD), but IgG4 alone shows slightly better sensitivity and overall diagnostic performance, suggesting it may be the...

Evinacumab has potential in the treatment of high-risk patients with homozygous familial hypercholesterolemia (HoFH), according to a case report from the first use of evinacumab in an Indian child with HoFH. Diagnosed at...

Children with genetic causes of short stature, such as hypochondroplasia and NPR2 mutations, experience significantly lower quality of life (QoL) compared to those with idiopathic short stature (ISS) or growth hormone deficiency (GHD),...

Whole blood can serve as a reliable alternative to plasma for diagnosing Smith-Lemli-Opitz syndrome (SLOS) by measuring 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) levels, according to a study. Using gas chromatography-mass spectrometry (GC-MS), the...

While sponsored genetic testing panels improve access to molecular diagnosis for inherited retinal diseases (IRD), significant challenges remain, including varying positivity rates between providers, discrepancies in variant classification (especially for variants of unknown...