Publications by authors named "D Rebrikov"
Auditory neuropathy spectrum disorder (ANSD) is often missed by standard hearing tests, accounting for up to 10% of hearing impairments (HI) and commonly linked to variants in 23 genes. We assessed 122 children with HI, including 102 with sensorineural hearing loss (SNHL) and 20 with ANSD. SNHL patients were genotyped for common variants using qPCR, while ANSD patients underwent whole exome sequencing, with variants analyzed across 249 genes.
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- Recent analysis identified over 400 damaging missense ACE mutations, suggesting that carriers of heterozygous loss-of-function ACE mutations may be at risk for late-onset Alzheimer's disease (AD).
- A study measuring blood ACE levels in 41 subjects with different heterozygous mutations revealed that certain mutations (Y215C and G325R) significantly reduced ACE levels, while the R1250Q mutation did not impact ACE levels.
- The findings indicate that measuring blood ACE levels in patients with ACE mutations could help identify those at increased risk for AD, potentially guiding future preventive treatments involving chaperones and proteasome inhibitors to improve ACE function.
Article Synopsis
- * Genetic analysis using trio-based exome sequencing found benign variants of the AIRE gene in all participants, which helped differentiate AAI and exclude APS type 1.
- * The study recommends whole genome analysis in future research to discover genetic predictors of autoimmune diseases, after identifying risk alleles in patients and noting the prevalence of specific haplotypes in healthy individuals.
Article Synopsis
- Researchers hypothesized that individuals with damaging mutations of the Angiotensin-I-Converting Enzyme (ACE) and low ACE levels may be at risk for late-onset Alzheimer’s disease (AD).
- The study analyzed blood ACE levels in 15 patients with various mutations and confirmed that a common mutation (Y215C) is linked to reduced ACE levels and AD risk.
- Additional mutations were identified that also correlated with decreased ACE levels, suggesting potential risk factors for AD; the research indicates that identifying these mutations may help target individuals who could benefit from specific therapeutic treatments.
Combined Predictors of Long-Term Outcomes of Kasai Surgery in Infants with Biliary Atresia.
Pediatr Gastroenterol Hepatol Nutr
July 2024
Purpose: Biliary atresia (BA) is the leading cause of neonatal cholestasis (25-45%). The primary treatment is hepatic portoenterostomy (Kasai procedure), but only 20-40% provide long-term benefits. This study aimed to develop a predictive model for surgical efficacy by comparing preoperative and early postoperative indicators in infants with different outcomes.
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