Background Glycogen storage disease type 1a (GSD1a) is an inborn genetic disease caused by glucose-6-phosphatase-α (G6Pase-α) deficiency and is often observed to lead to endogenous glucose production disorders manifesting as hypoglycemia, hyperuricemia, hyperlipidemia, lactic acidemia, hepatomegaly, and nephromegaly. The development of GSD1a with diabetes is relatively rare, and the underlying pathogenesis remains unclear. Case presentation Here we describe a case of a 25-year-old Chinese female patient with GSD1a, who developed uncontrolled type 2 diabetes mellitus (T2DM) as a young adult. The patient was diagnosed with GSD1a disease at the age of 10 and was subsequently treated with an uncooked cornstarch diet. Recently, the patient was treated in our hospital for vomiting and electrolyte imbalance and was subsequently diagnosed with T2DM. Owing to the impaired secretory function of the patient’s pancreatic islets, liver dysfunction, hypothyroidism, severe hyperlipidemia, and huge hepatic adenoma, we adopted diet control, insulin therapy, and hepatic adenoma resection to alleviate this situation. The WES discovered compound heterozygous mutations at the exon 5 of G6PC gene at 17th chromosome in the patient, c.648G>T (p.L216 L, NM_000151.4, rs80356484) in her father and c.674T>C (p.L225 P, NM_000151.4, rs1555560128) in her mother. c.648G>T is a well-known splice-site mutation, which causes CTG changing to CTT at protein 216 and creates a new splicing site 91 bp downstream of the authentic splice site, though both codons encode leucine. c.674T>C is a known missense mutation that causes TGC to become CGC at protein 225, thereby changing from coding for leucine to coding for proline. Conclusion We report a rare case of GSD1a with T2DM. On the basis of the pathogenesis of GSD1a, we recommend attentiveness to possible development of fasting hypoglycemia caused by GSD and postprandial hyperglycemia from diabetes. As the disease is better identified and treated, and as patients with GSD live longer, this challenge may appear more frequently. Therefore, it is necessary to have a deeper and more comprehensive understanding of the pathophysiology of the disease and explore suitable treatment options.

Objective: To investigate the correlation between serum laminin (LN) level and the prognosis of acute heart failure (AHF).Methods: A total of 199 patients with AHF treated in Nantong First People's Hospital from March 2019 to November 2021 were included in this study. The patients were divided into the event group and the non-event group according to whether major adverse cardiovascular events (MACEs) occurred during hospitalization. We collected the baseline data of all patients and their LN levels were measured. The receiver operating characteristic (ROC) curve was used to analyze the predictive value of LN for the occurrence of MACE in AHF patients during hospitalization. Multivariate Logistic regression analysis was used to screen the independent factors associated with the occurrence of MACE in patients with AHF.Results: Among 199 patients with AHF, 43 were in the event group and 156 were in the non-event group. The area under ROC curve of LN to predict MACE in AHF patients during hospitalization was 0.8144, 95% confidence interval (CI): 0.7433-0.8855, p < .0001, cutoff point = 77.9, specificity 58.33%, and sensitivity 88.37%. Multivariate logistic regression analysis showed that the independent factors associated with the occurrence of MACE in AHF patients were the increase of LN level (odds ratio [OR]: 1.020, 95% CI: 1.012-1.028), the decrease of ejection fraction (OR: 0.007, 95% CI: 0.000-0.362) and diastolic blood pressure (OR: 0.946, 95% CI: 0.913-0.981; p < .05). Conclusion:The increase of LN level is independently correlated with the occurrence of MACE in AHF patients during hospitalization, which has the potential to be a serological indicator for poor prognosis in patients with AHF.

We aimed to investigate the correlation between serum laminin (LN) levels and cardiac function in patients with atrial fibrillation (AF) and its predictive value for in-hospital prognosis. This study included 295 patients with AF who were admitted to the Second Affiliated Hospital of Nantong University from January 2019 to January 2021. The patients were divided into three groups according to the New York Heart Association (NYHA) functional classification (I-II, III, and IV); the LN levels increased with increasing NYHA class (P < 0.05). Spearman's correlation analysis revealed a positive correlation between LN and NT-proBNP (r = 0.527, P < 0.001). Of the patients, 36 had in-hospital major adverse cardiac events (MACEs), of whom 30 had acute heart failure, 5 had malignant arrhythmias, and one had stroke. The area under the ROC curve for predicting the in-hospital MACEs by LN was 0.815 (95% CI: 0.740-0.890, P < 0.001). Multivariate logistic regression analysis revealed that LN could be an independent predictor of in-hospital MACEs (odds ratio: 1.009, 95% confidence interval: 1.004-1.015, P = 0.001). In conclusion, LN may serve as a potential biomarker to evaluate the severity of cardiac function and predict in-hospital prognosis in AF patients.