Background Coronary artery aneurysms (CAA) persistence prediction is critical in evaluating Kawasaki disease (KD). This study established a nomogram prediction system based on potential risk factors for assessing the risk of CAA persistence in a contemporary cohort of patients with KD. Methods This cohort comprised 105 patients with KD who had been diagnosed with CAA during the acute or subacute phase by echocardiography. The follow-up duration was at least 1 year. The clinical and laboratory parameters were compared between the CAA regression and persistence groups. Multivariable logistic regression analysis was used to identify the independent risk factors for CAA persistence, which were subsequently used to build the nomogram predictive model. Decision curve analysis was used to assess the net benefits of different nomogram scores. Results Of these patients with CAA, 27.6% of patients presented with persistent lesions. The incidences of CAA persistence were 14.1%, 81.3%, and 100.0% in patients with small, medium, and large aneurysms, respectively. The ratio of neutrophils to lymphocytes, γ-GT, and CAA size at diagnosis were considered as the independent risk factors for CAA persistence in patients with KD. The nomogram predictive models yielded a high capability in predicting CAA persistence, based on either univariable or multivariable analyses-identified parameters, compared with using CAA size as a single predictor. Conclusion The initial ratio of neutrophils to lymphocytes, γ-GT, and CAA size were the independent risk factors for CAA persistence in patients with KD. Nomogram scores could help elevate predictive efficacy in detecting CAA persistence.

Objective. Surgical reduction is the leading approach to patients with lower extremity fractures. The options of anesthetic drugs during surgery are of great significance to postoperative recovery of patients. There is no consensus on the optimum anesthesia method for patients undergoing lower extremity fracture surgery. Our study is aimed at investigating the impacts of nerve block combined with general anesthesia on perioperative outcomes of the patients. Methods. In this retrospective study, 48 patients experienced general anesthesia only, and 42 patients received never block combined with general anesthesia. The perioperative hemodynamics was recorded, including mean arterial pressure (MAP), oxygen saturation of blood (SpO2), and heart rate (HR). Visual analogue scale (VAS) and Montreal Cognitive Assessment (MoCA) were carried out to evaluate postoperative pain and cognitive status. Furthermore, adverse reactions and recovery condition were observed between the patients receiving different anesthesia methods. Results. At 15 minutes and 30 minutes after anesthesia, as well as 5 minutes after surgery, significant lower MAP was observed in the patients treated with general anesthesia ( 83.04 ± 8.661 , 79.17 ± 9.427 , 86.58 ± 8.913 ) compared to those receiving never block combined with general anesthesia ( 90.43 ± 4.618 , 88.74 ± 6.224 , 92.21 ± 4.015 ) ( P < 0.05 ), and compared with general anesthesia group ( 68.5 ± 7.05 , 69.63 ± 7.956 , 72.75 ± 8.446 ), the combined anesthesia group ( 73.52 ± 9.451 , 74.17 ± 10.13 , 77.62 ± 9.768 ) showed obvious higher HR ( P < 0.05 ). No significant difference in SpO2 was found between the two groups at multiple time points ( P > 0.05 ). As for the score of VAS and MoCA, remarkably lower VAS and higher MoCA at 6 h, 12 h and 24 h after surgery were presented in the combined anesthesia group compared to general anesthesia group ( P < 0.05 ). At 24 h after surgery, the two groups showed normal cognitive function ( 26.33 ± 0.7244 vs. 28.55 ± 0.7392 ). Incidence of nausea and vomiting in the combined anesthesia group was lower than that of the general anesthesia group ( P < 0.05 ). The time to out-of-bed activity and hospital stay were shorter in the combined anesthesia group compared with general anesthesia ( P < 0.05 ). Conclusion. The application of never block combined with general anesthesia contributed to the stability of hemodynamics, alleviation of postoperative pain and cognitive impairment, along with decrease in adverse reactions and hospital stay in the patients with lower extremity fractures.

The study is aimed to establish a predictive model of hypoxemia after shoulder arthroscopy. The predictive model was based on a retrospective study with 756 patients who underwent shoulder arthroscopic surgery in Sichuan Orthopaedic Hospital from June 2019 to December 2020. Independent risk factors of hypoxemia in the post-anesthesia care unit (PACU) were screened out by the binary logistics regression and the primary predictive model was completed, which was evaluated by the receiver operating characteristic (ROC) curve and Hosmer-Lemeshow goodness-of-fit test. A separate cohort of 324 patients in the PACU from January 2021 to June 2021 was enrolled to validate the predictive model. Seven hundred fifty-six patients and 19 variables were enrolled in the binary logistics regression and 324 patients were validated by the primary predictive model. Logistics regression showed that application of irrigating solution ≥20 L, age, body mass index, and number of B-lines were independent risk factors of hypoxemia in the PACU (P < .05). The risk predictive model of hypoxemia in the PACU was established according to those factors. The model was validated by the Hosmer-Lemeshow test and the area under the curve of ROC was 0.823. The model area under the curve of external effect subject ROC was 0.870. The risk predictive model established in our study can predict the risk of hypoxemia in the PACU well and have good efficacy.Abbreviations: AUC = area under the receiver operating characteristic curve, BMI = body mass index, BP = blood pressure, CI = confidence interval, NB = the number of B-lines, PACU = post-anesthesia care unit, ROC = receiver operating characteristic.

Background Acute respiratory distress syndrome (ARDS) causes significant mortality in young children with certain diseases. Early diagnosis and treatment can reduce infant mortality. Here, we report a rare case of exome sequencing in the early diagnosis of immunodeficiency in an infant. Case presentation A four-month-old full-term male infant presented with severe shortness of breath, hypoxemia, and unexplained parenchymal lung lesions. A series of examinations were performed to search for potential culprit viruses but negative results were obtained with the only exception being the rhinovirus that tested positive. The child’s family history revealed he had a brother who died of severe infection at the age of two years. We performed an exome sequencing analysis and a mutation analysis of CD40LG to obtain genetic data on the patient. Besides, we used flow cytometry to measure the CD40LG expression levels of activated T cells. A retrospective review of all the CD40LG mutant-induced X-linked hyper IgM syndromes (XHIGM) had been conducted to assess the differences between clinical and genetic molecular features. Finally, a regular intravenous immunoglobulin (IVIG) regimen led to steady breathing, the correction of hypoxemia, and a progressive improvement of lung CT scans. During follow-up, the patient received an IVIG regimen and his CT images improved. Moreover, his parents took advantage of pre-implantation genetic testing with in vitro fertilization to have a healthy twin offspring who did not carry such a mutation according to the early exome sequencing for the proband. Compared with other CD40LG mutant cases in our center, this proband displayed a normal plasma immunoglobulin level and he should be the youngest infant to have a molecular diagnosis of XHIGM. Conclusion Usually, XHIGM would not be suspected with a normal plasma immunoglobulin concentration. However, as we could not identify a potential comorbidity or risk factor, exome sequencing helps target this patient's real facts. Thus, this case report calls for exome sequencing to be performed in the case of unexplained infections when immunodeficiency is suspected after general immunological tests, especially for cases with a contributive family history among infants as the maternal transfused immunoglobulin might mask immune deficiency.

Background PRKAG2 cardiac syndrome is a rare autosomal dominant genetic disorder caused by a PRKAG2 gene variant. There are several major adverse cardiac presentations, including hypertrophic cardiomyopathy (HCM) and life‐threatening arrhythmia. Two cases with pathogenic variants in the PRKAG2 gene are reported here who presents different cardiac phenotypes. Methods Exome sequencing and variant analysis of PRKAG2 were performed to obtain genetic data, and clinical characteristics were determined. Results The first proband was a 9‐month‐old female infant (Case 1), and was identified with severe DCM and resistant heart failure. The second proband was a 10‐year‐old female infant (Case 2), and presented with HCM and ventricular preexcitation. Exome sequencing identified a de novo c.425C > T (p.T142I) heterozygous variant in the PRKAG2 gene for Case 1, and a c.869A > T (p.K290I) for Case 2. The mutated sites in the protein were labeled and identified as p.K290 in the CBS domain and p.T142 in the non‐CBS domain. Differences in the molecular functions of CBS and non‐CBS domains have not been resolved, and variants might lead to the different cardiomyopathy phenotypes. Single‐cell RNA analysis demonstrated similar expression levels of PRKAG2 in cardiomyocytes and conductive tissues. These results suggest that the arrhythmia induced by the PRKAG2 variant was the primary change, and not secondary to cardiomyopathy. Conclusion In summary, this is the first case report to describe a DCM phenotype with early onset in patients possessing a PRKAG2 c.425C > T (p.T142I) pathogenic variant. Our results aid in understanding the molecular function of non‐CBS variants in terms of the disordered sequence of transcripts. Moreover, we used scRNA‐seq to show that electrically conductive cells express a higher level of PRKAG2 than do cardiomyocytes. Therefore, variants in PRKAG2 are expected to also alter the biological function of the conduction system.