Prevalence and outcomes of p.Val142Ile <i>TTR</i> amyloidosis cardiomyopathy: a systematic review

Background: The p.Val142Ile variant, predominantly found among people of African descent, is the most common cause of variant transthyretin amyloidosis and carriers predominantly develop a cardiomyopathy (variant transthyretin amyloidosis cardiomyopathy) phenotype. Yet, there are conflicting data on the prevalence and outcomes of p.Val142Ile variant carriers. Methods: We performed a systematic review of the prevalence and outcomes of p.Val142Ile variant transthyretin amyloidosis cardiomyopathy among subjects of African descent. We found 62 relevant articles after searching the MEDLINE databases from 1980 to 2020 that reported data for ≈150 000 subjects. Results: The reported worldwide prevalence of the p.Val142Ile variant is 0.3% to 1.6% in the general population. Among people of African descent, the reported prevalence from all studies ranges from 1.1% to 9.8%, but for studies with >1000 subjects, it is 3% to 3.5%. The prevalence of the p.Val142Ile variant in a region is dependent on the reported percentage of subjects who are of African descent in that region. p.Val142Ile variant transthyretin amyloidosis cardiomyopathy typically presents in the seventh to eighth decade of life and the majority of cases reported were male, with 25% to 38% diagnosed with atrial fibrillation. It was associated with a longitudinally worse quality of life and a lower adjusted survival compared with other types of transthyretin amyloidosis cardiomyopathy.Conclusions: The p.Val142Ile variant is the most common variant of the transthyretin gene with most carriers being of African descent. The true penetrance is unknown but the p.Val142Ile variant is associated with increased rates of incident heart failure and portends a lower overall survival. Increased awareness could lead to earlier diagnosis and improved heart failure outcomes among those of African descent, which is of increasing importance given the advent of novel therapeutics for this disease.</p

Effect of low-pressure pneumoperitoneum on pain and inflammation in laparoscopic cholecystectomy: a randomized controlled clinical trial

Abstract Objective We aim to assess the effect of low-pressure pneumoperitoneum on post operative pain and ten of the known inflammatory markers. Background The standard of care pneumoperitoneum set pressure in laparoscopic cholecystectomy is set to 12–14 mmHg, but many societies advocate to operate at the lowest pressure allowing adequate exposure of the operative field. Many trials have described the benefits of operating at a low-pressure pneumoperitoneum in terms of lower post operative pain, and better hemodynamic stability. But only few describe the effects on inflammatory markers and cytokines. Methods A prospective, double-blinded, randomised, controlled clinical trial, including patients who underwent elective laparoscopic cholecystectomy. Patients randomised into low-pressure (8–10 mmHg) vs. standard-pressure (12–14 mmHg) with an allocation ratio of 1:1. Perioperative variables were collected and analysed. Results one hundred patients were allocated, 50 patients in each study arm. Low-pressure patients reported lower median pain score 6-hour post operatively (5 vs. 6, p-value = 0.021) in comparison with standard-pressure group. Eight out of 10 inflammatory markers demonstrated better results in low-pressure group in comparison with standard-pressure, but the effect was not statistically significant. Total operative time and surgery difficulty was not significantly different between the two groups even in the hands of inexperienced surgeons. Conclusion low-pressure laparoscopic cholecystectomy is associated with less post operative pain and lower rise of inflammatory markers. It is feasible with comparable complications to the standard of care. Registered on ClinicalTrials.gov (NCT05530564/ September 7th, 2022)