[Clinical characteristics and genetic analysis of a Chinese pedigree affected by glycogen storage disease type Ia with gout as the first manifestation].

OBJECTIVE: To explore the clinical and genetic characteristics of a Chinese pedigree affected by glycogen storage disease (GSD) type Ia with gout as the first manifestation. METHODS: Clinical and biochemical data of the pedigree were collected. Available members of the pedigree were subjected to gene sequencing, and the result was analyzed by bioinformatics software. The pedigree was followed up for five years. RESULTS: The proband was a young female manifesting recurrent gout flare, hypoglycemia, and hypertriglyceridemia. One of her younger brothers also presented with dysplasia and hepatic adenoma. Gene sequencing revealed that the proband and her younger brother both harbored c.1022T>A (p.I1e341Asn) and c.230+5G>A compound heterozygous variants of the G6PC gene , which were inherited from their father and mother, respectively. Among these, the c.230+5G>A is an intron region variant which was unreported previously, and bioinformatics analysis showed that it may impact mRNA splicing of the gene. The proband was treated with raw corn starch, allopurinol, and fenofibrate. Gout was well controlled, and she had given birth to a baby girl without GSD. CONCLUSION: GSD Ia should be considered among young gout patients with hypoglycemia and hepatomegaly, for which gene sequencing is warranted. GSD Ia has a good prognosis after comprehensive treatment with diet and medicine.

Serum KL-6, CA19-9, CA125 and CEA are Diagnostic Biomarkers for Rheumatoid Arthritis-Associated Interstitial Lung Disease in the Chinese Population.

INTRODUCTION: This study aimed to evaluate the role of tumor marker carbohydrate antigen (CA) 125 (CA125), CA19-9, carcinoembryonic antigen (CEA) and Krebs von den Lungen-6 (KL-6) in the diagnosis and determination of the severity of interstitial lung disease (ILD) in rheumatoid arthritis (RA) patients. METHODS: A retrospective analysis was performed. Fifty RA patients (24 patients with ILD and 26 patients without ILD), 10 healthy subjects and 14 patients with other connective tissue disease-associated interstitial lung disease were included. Serum levels of KL-6 and tumor markers CA19-9, CA125 and CEA were measured. Chest HRCT of patients with ILD was scored quantitatively according to the degree of fibrosis. Data on the C-reactive protein, erythrocyte sedimentation rate, rheumatoid factors and anti-cyclic peptide containing citrulline (anti-CCP) were also collected. RESULTS: Serum levels of KL-6, CA19-9, CA125 and CEA in the RA-ILD group were significantly higher than those in the RA-no-ILD group. The serum KL-6 level was positively correlated with the HRCT fibrosis score (r = 0.63, p = 0.002). The logistic regression analysis showed that CA19-9 and smoking were associated with RA-ILD [OR = 1.118, 95% CI = (1.038, 1.204), p = 0.003 for CA19-9, OR = 14.969, 95% CI = (1.750, 128.043), p = 0.013 for smoking]. CONCLUSIONS: KL-6 level and tumor markers were elevated in RA-ILD, and strongly associated with the severity of ILD, supporting their value as pathogenically relevant biomarkers, which can contribute to noninvasive detection of this extra-articular disease complication.

Interstitial lung disease (ILD) is a common pulmonary manifestation of RA associated with high morbidity and mortality. Our retrospective study was performed to investigate the clinical utility of tumor marker carbohydrate antigen (CA) 125 (CA125), CA19-9, carcinoembryonic antigen (CEA) and Krebs von den Lungen-6 (KL-6) in the diagnosis and determining the severity of RA-ILD. Fifty RA patients (24 patients with ILD and 26 patients without ILD), 10 healthy subjects and 14 patients with other connective tissue disease-associated interstitial lung disease (CTD-ILD) were included. The results showed KL-6 level and tumor markers were elevated in RA-ILD, and strongly associated with the severity of ILD, which meant KL-6 and tumor markers might be useful pathogenically relevant biomarkers and could be predictors for the diagnosis and determination of severity of ILD in RA.

The impact of malnutrition on atrial fibrillation recurrence post ablation.

BACKGROUND AND AIMS: Both malnutrition and atrial fibrillation (AF) are the major health problems in modern society. Only a few studies focused on the relationship between malnutrition and recurrence of atrial arrhythmias post AF ablation (AF recurrence), which used body mass index (BMI) as nutrition assessment tool. However, BMI can't credibly reflect body composition and has limitation in patients with water-sodium retention. In this study, we used controlling nutritional status score (CONUT score) and geriatric nutritional risk index (GNRI) to identify the malnutrition patients and explored the effect of malnutrition on AF recurrence. METHODS AND RESULTS: This retrospective study included 246 patients who underwent AF ablation. During a median 11-month follow-up, 77 patients (31.3%) experienced AF recurrence. The recurrence group had higher CONUT score (2.3 ± 1.5 vs. 0.9 ± 1.0, P < 0.001) and lower GNRI (99.9 ± 7.6 vs. 103.9 ± 5.6, P < 0.001). After balancing the traditional risk factors, both CONUT score (OR: 2.614, 95%CI: 1.831-3.731, P < 0.001) and GNRI (OR: 0.884, 95%CI: 0.828-0.944, P < 0.001) were the independent predictors for AF recurrence. Pre-ablation CONUT score ≥1 and GNRI≥95.66 are indicative of AF recurrence. Adding CONUT score or GNRI to the base prediction model for AF recurrence significantly improved the discrimination and calibration. However, adding BMI to the base prediction model did not improve the model performance. CONCLUSIONS: CONUT score and GNRI are ideal tools to evaluate the nutrition status of AF patients. Undernourished patients are more likely to suffer from AF recurrence. Improving nutrition status may be a potential target for reducing the postoperative recurrence rate.

[Success rate of one-stop procedure for atrial fibrillation ablation and its impact on cardiac function: a propensity-matched study].

OBJECTIVE: To investigate the effect of the combination of atrial fibrillation (AF) ablation and left atrial appendage closure (LAAC) on cardiac function and the success rate of AF ablation. METHODS: We retrospectively analyzed the data of 56 patients with AF undergoing a one-stop procedure for AF ablation and LAAC in our hospital between May, 2015 and May, 2019. Propensity score matching (PSM) at the ratio of 1:1 was used to select 56 control patients undergoing AF ablation at high risk of stroke, for matching with the hybrid procedure group. The perioperative complications, thromboembolic events, recurrence of atrial arrhythmia and cardiac function were compared between the groups. RESULTS: The two groups of patients were comparable for age, gender, BMI, duration and type of AF, concomitant diseases, CHA2DS2-VASc and HAS-BLED scores (P > 0.05). The incidence of complications did not differ significantly between the hybrid procedure group and AF ablation group (17.9% vs 12.5%, P=0.430). Compared with the control patients with AF ablation alone, the patients undergoing the hybrid procedure had a lowered incidence of thromboembolic events, but the difference was not statistically significant (1.8%vs 3.6%, P=1.000). The hybrid procedure did not improve the success rate of AF ablation (OR: 1.338, 95%CI: 0.451-3.973, P= 0.600) but significantly improved the cardiac function parameters including NT-pro BNP (945.3±1401.6 pg/mL vs 1520.7±2089.1 pg/mL, P=0.010), LVEF[(60.8±7.0)% vs (58.6±7.8)%, P=0.044], and left atrial diameter (43.9±7.5 mm vs 45.6±6.3 mm, P=0.076); but the improvement of cardiac function was more obvious in the control patients undergoing AF ablation alone (P < 0.039). CONCLUSIONS: The combination of AF ablation and LAAC is safe but does not improve the success rate of AF ablation. The one-stop procedure can improve cardiac function of the patients, but AF ablation alone can achieve better improvement of cardiac function.