Atrial fibrillation and skeletal musculopenia are common diseases in elderly patients, and the two conditions share the common risk factors and pathogenesis, and interact with each other during their occurrence and development. This article reviews the research advances on the epidemiology, risk factors, pathogenesis of atrial fibrillation and sarcopenia in the elderly, as well as the screening, evaluation and comprehensive management of elderly patients with atrial fibrillation combing sarcopenia.

AIM:To investigate the role of Epac/Rap1 signaling pathway in hypoxia-reoxygenation injury in H9c2 cells,and to explore the mechanism of vitexin regulating the Epac/Rap1 signaling path-way to protect cardiomyocytes from hypoxia-reoxy-genation injury.METHODS:The oxygen glucose de-privation(OGD)model was established using H9c2 cardiomyocytes to simulate hypoxia-reoxygenation injury.The experiment was randomly divided into 7 groups:Normal control group,OGD group,OGD+VT group,OGD+8-CPT+VT group,OGD+ESI-09+VT group,OGD+8-CPT+VT+H-89 group,OGD+ESI-09+VT+H-89 group.Cell viability was measured by MTT.LDH was used to detect cell damage.The ex-pression levels of Epac1 and its downstream Rap1-GTP,CaMK Ⅱ and ERK proteins in H9c2 cells were detected by Western blot.The expression of Epac1 and Rap1 proteins in H9c2 cardiomyocytes was de-tected by immunofluorescence.The mRNA expres-sion of Rap1 and Epac1 in H9c2 cardiomyocytes was quantitatively determined by real-time PCR.Calcium ion fluorescence probe(Fluo-3 AM)was used to detect intracellular[Ca2+]i content.The in-teraction between Epac1 and Rap1 in cells were de-tected by Co-IP.RESULTS:Compared with the nor-mal control group,after hypoxia for 5 h and reoxy-genation for 1 h,the release of LDH,cell viability,Epac1 protein expression,Rap1 activation and RAP1-GTP up-regulation of H9c2 cardiomyocytes in OGD group were significantly increased.VT(10μmol/L)significantly inhibited the activation of Epac1 in H9c2 cardiomyocytes after OGD,and then inhibited the expression of downstream Rap1 ac-tive form Rap1-GTP.In addition,the expression of CaMK Ⅱ protein was down-regulated,but ERK phosphorylation was increased,and intracellular calcium overload was alleviated.Epac1 agonist 8-CPT could counteract the effect of VT,and Epac1 in-hibitor(ESI-09)combined with VT had synergistic effect.PKA inhibitor(Hmur89)had no effect on the expression of Epac1 and its downstream related proteins in cardiomyocytes.CONCLUSION:Hypoxia-reoxygenation can mediate the activation of Epac1/Rap1 signal pathway in cardiomyocytes.VT can pro-tect cardiomyocytes from hypoxia-reoxygenation in-jury by inhibiting Epac1/Rap1 signal pathway,down-regulating CaMK Ⅱ protein expression and promoting ERK phosphorylation.

Objective To develop a risk prediction model for postoperative malnutrition in children with congenital heart disease(CHD)and to verify it both internally and externally.Methods By a convenience sampling method,300 CHD children treated at a tertiary hospital in Shandong Province from January 2018 to December 2021 were selected as a modeling group,and 129 children from January 2022 to June 2023 were selected as a validation group.Data on patient demographics,disease-specific variables,therapeutic interventions,and nursing care parameters were collected.Single factor and logistic regression were employed to construct a risk prediction model for postoperative malnutrition in CHD children,and the nomogram was drawn and its prediction effect was evaluated.Results The incidence of postoperative malnutrition among CHD children was 33.10％.Logistic regression analysis revealed that risk factors for malnutrition in children included birth weight＜2.5 kg,preoperative malnutrition,negative fluid balance 1 week after surgery,and long duration of cardiopulmonary bypass(P＜0.05).The area under the receiver operating characteristic curve of the modeling group was 0.933;the sensitivity was 83.30％;the specificity was 90.90％.The Hosmer-Lemeshow test showed that x2=7.765(P=0.457).The AUC of the validation group was 0.918;the sensitivity was 87.20％;the specificity was 90.00％.The Hosmer-Lemeshow test showed that x2=4.947(P=0.763).Calibration curves for both groups indicated good calibration of the model,and the clinical decision curves demonstrated its practical clinical utility.Conclusion The risk prediction model developed in this study exhibits good predictive ability,which can provide a reference for medical staff to early identify high-risk infants for postoperative malnutrition following CHD surgery and to formulate targeted intervention measures.

Objective:To explore the risk factors of catheter-related thrombosis（CRT）in femoral vein indwelling catheter for patients undergoing artificial liver therapy.Methods:The clinical data 1 060 patients who received non biological artificial liver therapy with femoral vein catheterization at the Artificial Liver Center of the First Affiliated Hospital，Zhejiang University School of Medicine from February 26，2019 to March 30，2022 were retrospectively analyzed. During the treatment，CRT occurred in femoral vein indwelling catheter in 574 cases（54.2%，CRT group）and did not occurred in remaining 486 cases（non-CRT group）. The influencing factors of CRT were analyzed with multiple Logistic regression.Results:Univariate analysis showed that gender，D-dimer before and after catheterization，international normalized ratio（INR），total bilirubin，catheterization location，and catheter retention time were significantly associated with the occurrence of CRT（all P<0.05）. Multiple Logistic regression analysis showed that male gender（ OR=1.627，95% CI 1.233-2.148， P<0.001），right femoral vein catheterization（ OR=2.101，95% CI 1.130-3.908， P=0.019），catheter retention time（ OR=1.039，95% CI 1.003-1.077， P=0.035），D-dimer >500 μg/L FEU after catheterization（ OR=1.697，95% CI 1.191-2.416， P=0.003）and INR≥1.5（ OR=1.343，95% CI 1.001-1.801， P=0.049）were independent risk factors for CRT in femoral vein indwelling catheter for artificial liver therapy. Conclusion:The incidence of CRT is high in patients undergoing artificial liver therapy with femoral vein catheterization. In clinical practice，medical staff should early identify high-risk populations for CRT and take timely preventive measures.

Cognitive frailty, as one of the hotspots in the field of geriatric medicine research, is a disease state where physical frailty and cognitive impairment coexist. Cognitive frailty is related to sociodemographic factors, nutritional status, geriatric syndrome, physical and cognitive activities, comorbidities, etc., but the underlying mechanisms are not yet clear. Cognitive frailty not only increases the risk of adverse health outcomes such as falls, disability, and hospitalization in the elderly, but also exacerbates the burden on families and public healthcare systems. This article reviews the recent progress on the cognitive frailty in the elderly, focusing on the awareness of cognitive frailty, the related mechanisms and influencing factors, the assessment methods and non-pharmaceutical interventions to provide reference for clinical application.

OBJECTIVE: To explore the clinical and genetic characteristics of two children with developmental delay. METHODS: Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children. RESULTS: Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously. CONCLUSION The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.
Child ; Humans ; Developmental Disabilities/genetics* ; High-Throughput Nucleotide Sequencing ; Intellectual Disability/genetics* ; Karyotyping ; Mutation

The co-existence of multiple chronic diseases has been increasing in the elderly population, it has become a major challenge globally, and identifying comorbidities patterns can help provide clues for disease prevention and treatment, as well as improving prognosis. This article reviews the identification methods, influencing factors and management strategies of chronic disease comorbidities, to provide a reference for the research and management of comorbidity.

OBJECTIVE: To evaluate the effectiveness of robot-guided percutaneous fixation and decompression via small incision in treatment of advanced thoracolumbar metastases. METHODS: A clinical data of 57 patients with advanced thoracolumbar metastases admitted between June 2017 and January 2021 and met the selection criteria was retrospectively analyzed. Among them, 26 cases were treated with robot-guided percutaneous fixation and decompression via small incision (robot-guided group) and 31 cases with traditional open surgery (traditional group). There was no significant difference in gender, age, body mass index, lesion segment, primary tumor site, and preoperative Tokuhashi score, Tomita score, Spinal Instability Neoplastic Score (SINS), visual analogue scale (VAS) score, Oswestry disability index (ODI), Karnofsky score, and Frankel grading between groups ( P>0.05). The operation time, hospital stays, hospital expenses, intraoperative blood loss, postoperative drainage volume, duration of intensive care unit (ICU) stay, blood transfusion, complications, and survival time were compared. The pedicle screw placement accuracy was evaluated according to the Gertzbein-Robbins grading by CT within 4 days after operation. The pain, function, and quality of life were evaluated by VAS score, ODI, Karnofsky score, and Frankel grading. RESULTS: During operation, 257 and 316 screws were implanted in the robot-guided group and the traditional group, respectively; and there was no significant difference in pedicle screw placement accuracy between groups ( P>0.05). Compared with the traditional group, the operation time, hospital stays, duration of ICU stay were significantly shorter, and intraoperative blood loss and postoperative drainage volume were significantly lesser in the robot-guided group ( P<0.05). There was no significant difference in hospital expenses, blood transfusion rate, and complications between groups ( P>0.05). All patients were followed up 8-32 months (mean, 14 months). There was no significant difference in VAS scores between groups at 7 days after operation ( P>0.05), but the robot-guided group was superior to the traditional group at 1 and 3 months after operation ( P<0.05). The postoperative ODI change was significantly better in the robot-guided group than in the traditional group ( P<0.05), and there was no significant difference in the postoperative Karnofsky score change and Frankel grading change when compared to the traditional group ( P>0.05). Median overall survival time was 13 months [95% CI (10.858, 15.142) months] in the robot-guided group and 15 months [95% CI (13.349, 16.651) months] in the traditional group, with no significant difference between groups ( χ ²=0.561, P=0.454) . CONCLUSION Compared with traditional open surgery, the robot-guided percutaneous fixation and decompression via small incision can reduce operation time, hospital stays, intraoperative blood loss, blood transfusion, and complications in treatment of advanced thoracolumbar metastases.
Humans ; Blood Loss, Surgical ; Quality of Life ; Retrospective Studies ; Robotics ; Surgical Wound ; Decompression

Objective:To systematically analyze and integrate the psychological experience of heart failure patients using mobile medical applications (App) for self-management.Methods:Qualitative research on the self-management experience of heart failure patients using mobile medical App was retrieved through computer on PubMed, Web of Science, Embase, Cochrane Library, CINAHL, PsycINFO, Australian Joanna Briggs Evidence-Based Health Care Center Database, China National Knowledge Infrastructure, WanFang Data, VIP, and China Biomedical Literature Database. The search period was from the establishment of the database to December 30, 2022. The quality of literature was evaluated in accordance with the quality evaluation criteria for qualitative research of the Joanna Briggs Institute Evidence-Based Health Care Center (2016) . The results were integrated using the aggregative integration method.Results:A total of 14 articles were included, 32 research results were extracted, and 7 new categories were summarized. Finally, three integrated results were obtained (positive experience of heart failure patients using mobile medical App, risks and challenges of heart failure patients using mobile medical App, and preferences and expectations of heart failure patients towards mobile medical App) .Conclusions:The mobile medical App provides new ideas for self-management of heart failure patients, and its effectiveness is recognized by most heart failure patients, who perceive significant benefits. Future research should enrich the functionality and participation forms of the App based on the personalized needs of patients and their families, explore remote health management intervention models at home, and promote the promotion and application of mobile medical App.

OBJECTIVE: To explore the genetic basis for a neonate featuring developmental delay. METHODS: Clinical examination and laboratory tests were carried out for the patient. Peripheral venous blood samples of the proband and his parents were extracted and subjected to target capture next generation sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The patient, a four-month-old male, has presented with developmental delay and weakness of limbs. Genetic testing revealed that he had harbored a novel c.1432C>T variant of the TNPO3 gene, which was inherited from his mother. The nonsense variant has resulted in premature termination of protein translation and was predicted to be pathogenic by bioinformatics analysis. CONCLUSION The heterozygous c.1432C>T variant of the TNPO3 gene probably underlay the limb-girdle muscular dystrophies form 1F in this patient. Above finding has enriched the variation spectrum of the TNPO3 gene.
Genetic Testing ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Muscular Dystrophies, Limb-Girdle/genetics* ; Mutation ; Phenotype ; beta Karyopherins/genetics*