Elevated creatinine, erythrocyte sedimentation rate, and C-reactive protein levels were associated with the rs231775 AG and GG genotypes. The G allele of rs231775 was strongly associated with elevated ...

The findings highlight the urgent need for further research to inform clinical practice and optimize personalized treatment strategies for affected patients. Several commonly used drugs, including ...

Normal ceruloplasmin and urinary copper levels initially masked the diagnosis, underscoring the limitations of conventional biochemical testing in early disease. Whole-exome sequencing established the ...

The association between the reduction in 99m Tc-DPD uptake at follow-up and several established biomarkers of response to treatment in transthyretin amyloid cardiomyopathy (ATTR-CM) is poor, according ...

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

Independent predictors of myasthenic crisis were the Myasthenia Gravis Foundation of America classification, the presence of thymoma, oropharyngeal secretions, oxygenation index, partial pressure of ...

Panacinar emphysema was most commonly associated with SERPINA1 mutations; no mutations were observed in paraseptal emphysema. Genotyping of patients with emphysema and low serum alpha-1 antitrypsin ...

The risk of Val122Ile mutations leading to transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) was increased in Hispanic/Latino individuals with an African ancestry, according to a study published ...

Immunotherapy-based combinations appear to provide greater benefit than multi-kinase inhibitors for these patients. Systemic therapies for hepatocellular carcinoma (HCC) are effective in real-world ...

The systematic literature review of 55 interventional trials found that cardiovascular outcomes were reported inconsistently and often without sufficient detail. Patients with chronic lymphocytic ...

Four patients who had severe nephrotic syndrome unresponsive to tafamidis quickly responded to a change in siRNA therapy Patients with hereditary transthyretin amyloid polyneuropathy (ATTR-PN) ...

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 ...