Month: <span>August 2025</span>
Month: August 2025

Fazirsiran for the treatment of alpha-1 antitrypsin deficiency-associated liver disease findings from the SEQUOIA phase 2 trial

Ann Med Surg (Lond). 2025 May 30;87(7):4014-4016. doi: 10.1097/MS9.0000000000003393. eCollection 2025 Jul. ABSTRACT Alpha-1 antitrypsin deficiency (AATD) is a prevalent autosomal recessive disorder affecting approximately …

A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic Diagnosis

Genet Med. 2025 Aug 21:101561. doi: 10.1016/j.gim.2025.101561. Online ahead of print. ABSTRACT PURPOSE: Diagnosing rare diseases is costly. The objectives were to microcost exome (ES) …

Global Prevalence of Functional Abdominal Pain Disorder among Children and Adolescents According to the Rome III and IV Criteria: A Systematic Review and Meta-Analysis

Gut Liver. 2025 Aug 25. doi: 10.5009/gnl250225. Online ahead of print. ABSTRACT BACKGROUND/AIMS: Despite the global burden of functional abdominal pain disorder (FAPD) and its …

Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism

Front Immunol. 2025 Aug 7;16:1604460. doi: 10.3389/fimmu.2025.1604460. eCollection 2025. ABSTRACT Griscelli syndrome type 2 (GS-2) is a rare congenital immune dysfunction characterized by partial albinism …