Liver transplantation for the treatment of acute liver failure in 3 cases with NBAS gene deficiency and literature review / 中华儿科杂志

Objective: To investigate the clinical efficacy of liver transplantation in the treatment of acute liver in children with NBAS gene deficiency disease and their outcome. Methods: This retrospective study enrolled children with NBAS gene deficiency who were admitted to the Children's Hospital of Fudan University for liver transplantation from January 2013 to June 2022. The clinical data were collected and analyzed. Medical literature published before June 2022 was searched with the keywords of "NBAS" "neuroblastoma amplified sequence recurrent" "acute liver failure" "SOPH syndrome" "short stature with optic nerve atrophy" "Pelger-Huët anomaly" in PubMed, China National Knowledge Infrastructure and Wanfang database. Results: Liver transplantation was performed in 3 patients (2 males and 1 female) with NBAS deficiency. All patients presented with fever-triggered recurrent acute liver failure. The genetic detection found compound heterozygous NBAS gene pathogenic variants in them. The total episodes of acute liver failure before liver transplantation were 11, 2, and 4 respectively, and the age at liver transplantation was 3.5, 2.3, and 2.0 years respectively. During liver transplantation, patient 1 was in the convalescent phase of acute liver failure, patient 2 was in the acute phase, presenting with hepatic encephalopathy (grade V) and respiratory failure, and patient 3 was considered to be in the acute phase. After liver transplantation, patient 1 recovered normal liver function within 1 month and had no liver transplantation-related complications. Patient 2 had secondary epilepsy, intellectual disability, movement disorder, and transiently elevated transaminases. Patient 3 died of severe infection within 1 month. There was no literature in Chinese, 6 in English, 8 NBAS-deficient patients who were treated with liver transplantation. Total 11 patients presented with fever-triggered recurrent acute liver failure. Their age at liver transplantation ranged from 0.9 to 5.0 years. Postoperative complications occurred in 3 patients. Until the last visit, they were followed up for 0.7 to 14.0 years. Total 2 patients died and the 9 surviving patients did not develop acute liver failure. Conclusions: Liver transplantation is effective for the treatment of acute liver failure associated with NBAS gene disease. However, postoperative complications of liver transplantation may occur. The timing of liver transplantation still needs further research.

Risk factors of low cardiac output syndrome after cardiac valvular surgery in elderly patients with valvular disease complicated with giant left ventricle / 中华心血管病杂志

Objective: To explore the risk factors of low cardiac output syndrome (LCOS) after cardiac valvular surgery in elderly patients with valvular disease complicated with giant left ventricle. Methods: This was a retrospective study. The clinical data of patients over 60 years old with giant left ventricle who underwent cardiac valvular surgery in Henan Provincial People's Hospital (Fuwai Central China Cardiovascular Hospital) from January 2016 to January 2020 were collected in this study. Patients were divided into LCOS group and non-LCOS group. The clinical data, preoperative echocardiographic results and surgical data of all patients were collected. Taking LCOS as dependent variable and statistically significant variables in univariate analysis as independent variable, multivariate logistic regression equation was constructed to identify the risk factors of LCOS after cardiac valvular surgery in elderly patients with valvular disease complicated with giant left ventricle. On the basis of logistic regression, the risk factors of continuous variables were put into the regression model for trend test. Results: A total of 112 patients were included, among whom 76 patients were male, the mean age was (65.3±3.8) years. There were 21 cases in LCOS group and 91 cases in non LCOS group. Univariate analysis showed that age≥70 years, preoperative NYHA cardiac function class Ⅳ, preoperative renal dysfunction, preoperative cerebrovascular disease, preoperative LVEF<40%, blood loss/total blood volume>20%, cardiopulmonary bypass (CPB) time>130 minutes and aortic cross-clamp time>90 minutes all had statistically significant differences between the two groups (all P<0.05). Multivariate logistic regression analysis showed that age≥70 years (OR=5.067, 95%CI 1.320-19.456, P=0.018), preoperative NYHA cardiac function class Ⅳ (OR=3.100, 95%CI 1.026-9.368, P=0.045), renal dysfunction (OR=3.627, 95%CI 1.018-12.926, P=0.047), CPB time>130 minutes (OR=4.539, 95%CI 1.483-13.887, P=0.008) were the independent risk factors of LCOS after cardiac valvular surgery in elderly patients with giant left ventricle. Risk of LCOS was significantly higher in patients aged from 65 to 70 years (OR=1.784, 95%CI 0.581-5.476) and aged 70 years and above (OR=4.400, 95%CI 1.171-16.531) than in patients aged from 60 to 65 years. The trend test results showed that the risk of LCOS increased significantly in proportion with the increase of age (P for trend=0.024). Risk of LCOS was significantly higher in patients with CPB time between 90 and 110 minutes (OR=1.917, 95%CI 0.356-10.322), 110 and 130 minutes (OR=1.437, 95%CI 0.114-18.076) and 130 minutes and above (OR=5.750, 95%CI 1.158-28.551) than in patients with CPB time ≤ 90 minutes (P for trend=0.009). Conclusions: The risk factors of LCOS after cardiac valvular surgery are age≥70 years, preoperative NYHA cardiac function class Ⅳ, renal dysfunction, CPB time>130 minutes in elderly patients with giant left ventricle.

Association of Visit-to-Visit Variability of Blood Pressure with Cardiovascular Disease among Type 2 Diabetes Mellitus Patients: A Cohort Study

BACKGROUND: Increasing evidence has shown that visit-to-visit variability (VVV) of blood pressure (BP) is associated with an increased risk of cardiovascular disease (CVD). The objective of this study was to evaluate the impact of VVV of systolic blood pressure (SBP) and diastolic blood pressure (DBP) on the risk of CVD among patients with type 2 diabetes mellitus (T2DM) in China. METHODS: We conducted a retrospective cohort study of 10,163 T2DM patients who were not previously diagnosed with CVD from January 2008 to December 2012 in Ningbo, China. The VVV of BP was calculated using five metrics, including standard deviation (SD), coefficient of variation (CV), variation independent of mean, average real variability, and successive variability (SV) of measurements, obtained over a 24-month measurement period. Hazard ratios and 95% confidence intervals (CIs) were estimated by Cox proportional hazards regression models for the associations of variability in BP with risk of CVD. RESULTS: A total of 894 CVD events were observed during a median follow-up of 49.5 months. The hazard ratio in the highest quintile of SD of SBP was 1.24 (95% CI, 1.01 to 1.52) compared with patients in the lowest quintile. The association between higher VVV of DBP and risk of CVD was not consistent across different metrics and sensitivity analyses. CONCLUSION: Higher VVV of SBP was associated with an increased risk of CVD, irrespective of the mean SBP level. Future studies are needed to confirm these findings.