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.

Objective:To construction the risk factors associated with prolonged hospitalization in patients with severe acute pancreatitis (SAP) and develop a prediction model for assessing these risks.Methods:SAP patients admitted to the department of emergency of Hebei Province Cangzhou Hospital of Integrated Traditional Chinese and Western Medicine from January 2015 to December 2023 were retrospectively selected as the study subjects. The 75% of hospital stay was used as the cut-off point, and the patients were categorized into a normal group and an extended group. Clinical indicators of patients were collected, and independent risk factors for prolonged hospital stay in SAP patients were analyzed using multifactor Logistic regression. A prediction model was established, and a nomogram was created. The efficiency of the prediction model was evaluated using a receiver operator characteristic curve (ROC curve). The accuracy of the model was assessed using Hosmer-Lemeshow goodness-of-fit test. Decision curve analysis (DCA) was employed to evaluate the clinical applicability of the model. Finally, internal validation of the model was conducted using Bootstrap method.Results:A total of 510 patients with SAP were included, and the length of hospital stay was 18 (6, 44) days, including 400 cases in the normal group (<24 days) and 110 cases in the extended group (≥24 days). Multivariate Logistic regression analysis showed that abdominal effusion [odds ratio ( OR) = 4.163, 95% confidence interval (95% CI) was 2.105-8.234], acute physiology and chronic health evaluation Ⅱ (APACHEⅡ; OR = 1.320, 95% CI was 1.185-1.470), C-reactive protein (CRP; OR = 1.006, 95% CI was 1.002-1.011), modified CT severity index (MCTSI; OR = 1.461, 95% CI was 1.213-1.758), procalcitonin (PCT; OR = 1.303, 95% CI was 1.095-1.550) and albumin ( OR = 0.510, 95% CI was 0.419-0.622) were independent risk factors for prolonged hospital stay in SAP patients (all P < 0.01). ROC curve analysis showed that the area under the curve (AUC) of the model was 0.922 (95% CI was 0.896-0.947), the optimal cut-off value was 0.726, the sensitivity was 87.3%, and the specificity was 85.3%. Hosmer-Lemeshow test showed that χ 2 = 5.79, P = 0.671. It showed that the prediction model had good prediction efficiency and fit degree. The DCA curve showed that the prediction probability of the model could bring more clinical benefits to patients at 0.1 to 0.7. Bootstrap internal verification showed that the model had a high consistency (AUC = 0.916). Conclusions:Abdominal effusion, high APACHEⅡ score, high CRP, high MCTSI, high PCT and low albumin level are significantly associated with prolonged hospital stay in SAP patients. The prediction model can help clinicians make more scientific clinical decisions for SAP patients.

OBJECTIVE: To analyze the clinical and genetic characteristics of three Chinese pedigrees affected with Citrullinemia type I (CTLN1). METHODS: Three children diagnosed at the Children's Hospital Affiliated to Shandong University from 2017 to 2020 were selected as the study subjects. Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Next generation sequencing (NGS) was carried out to detect pathological variants of the probands. Sanger sequencing was used for validating the candidate variant among the pedigrees. RESULTS: The probands have respectively carried compound heterozygous variants of c.207_209delGGA and c.1168G>A, c.349G>A and c.364-1G>A, c.470G>A and c.970G>A of the ASS1 gene, which were respectively inherited from their parents. CONCLUSION The newly discovered c.207_209delGGA and c.364-1G>A variants have enriched the mutational spectrum of the ASS1 gene. And the mutation spectrum of Chinese CTLN1 patients is heterogeneous.
Child ; Humans ; Argininosuccinate Synthase/genetics* ; Citrullinemia/genetics* ; East Asian People ; Mutation ; Pedigree

OBJECTIVE: To explore the clinical characteristics and genetic basis of two brothers featuring X-linked alpha thalassemia mental retardation (ATR-X) syndrome. METHODS: An infant who had presented at the Qilu Children's Hospital in 2020 for unstable upright head and inability to roll over and his family were selected as the study subjects. The clinical features of the child and one of his brothers were summarized, and their genomic DNA was subjected to targeted capture and next generation sequencing (NGS). RESULTS: The brothers had presented with mental retardation and facial dysmorphisms. NGS revealed that they had both harbored a hemizygous c.5275C>A variant of the ATRX gene located on the X chromosome, which was inherited from their mother. CONCLUSION The siblings were diagnosed with ATR-X syndrome. The discovery of the c.5275C>A variant has enriched the mutational spectrum of the ATRX gene.
Humans ; Infant ; Male ; alpha-Thalassemia/diagnosis* ; Ataxia Telangiectasia Mutated Proteins/genetics* ; East Asian People ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/diagnosis* ; Pedigree ; X-linked Nuclear Protein/genetics*

Objective:To construct the prediction model of SAP complicated with intra-abdominal hypertension (IAH), and evaluate the prediction efficiency of the model.Methods:The clinical data of 322 SAP patients admitted to the emergency department of Cangzhou Hospital of Integrated Chinese and Western Medicine in Hebei Province from January 2017 to December 2021 were retrospectively analyzed. They were divided into IAH group ( n=153) and control group ( n=169) according to whether they had IAH complications or not. The clinical characteristics and laboratory test results of the two groups were compared. Multifactor logistic step-up regression was used to analyze the risk factors of SAP patients complicated with IAH. A nomogram model for predicting SAP complicated with IAH was established by using R software. The receiver operating characteristic curve (ROC) of the model was plotted, and the area under the curve (AUC) was calculated to evaluate its prediction efficiency. Calibration chart, Hosmer-Lemesshow test and decision curve analysis were used to evaluate the prediction accuracy and clinical application value of the model. The Bootstrap method was applied to verify the model internally. Results:In IAH group, cases with body mass index, CRP, procalcitonin (PCT), WBC, acute physiological and chronic health assessmentⅡ (APACHEⅡ) score, modified CT Severity Index score (MCTSI), incidence of complications (abdominal effusion, abdominal infection, gastrointestinal dysfunction, shock, multiple organ dysfunction syndrome), mechanical ventilation, the number of high-volume fluid reactivation (24 h≥4 L) were more than those in control group; serum albumin and serum calcium in IAH group were lower than those in control group, and the differences were statistically significant (all P value <0.05). Multivariate logistic regression analysis showed that serum albumin ( OR=0.815, 95% CI 0.710-0.937), CRP ( OR=1.005, 95% CI 1.002-1.008), MCTSI ( OR=2.043, 95% CI 1.695-2.463), complication of gastrointestinal dysfunction ( OR=4.179, 95% CI 2.170-8.049), and high-volume fluid resuscitation ( OR=4.265, 95% CI 2.269-8.015) were independent risk factors for IAH in SAP.The Nomogram prediction model was established using the five factors above as parameters, and the AUC value for predicting IAH complication was 0.886. The Hosmer-Lemesshow test showed a high consistency between the prediction results and the actual clinical observation results ( P=0.189). The results of decision curve analysis showed that the prediction probability of the model was between 10% and 85%, which could bring more benefits to patients. Conclusions:The early prediction model of SAP with concurrent IAH is successfully established, which can better predict the risk of SAP with concurrent IAH.

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 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

Objective : To investigate the role of Epac1 / CaMK Ⅱ signaling pathway in myocardial ischemia reper- fusion injury (MIRI) in mice，and to investigate the protective effect of vitexin ( VT) on acute MIRI． Methods: C57 / BL mice were randomly divided into 5 groups : Sham surgery group ( Sham) ，ischemia reperfusion group ( I / R) ，and ischemia reperfusion + vitexin group ( function 3，6，12 mg / kg groups) ．Ligation of the left anterior descending coronary artery (LAD coronary artery) in mice resulted in ischemia of part of the heart tissue for 30min and reperfusion of the blood for 120min．Mouse myocardial ischemia reperfusion injury ( MIRI) model was established．In the sham operation group，only the LAD was not ligated．Serum LDH levels of mice were detected．Hema- toxylin-eosin (H＆E) staining was performed on the left ventricular myocardium of mice to observe the histopatho- logical changes．The expression level of Epac1 in myocardial tissue was observed by immunohistochemistry．The protein expressions of Epac1，Rap1，CaMK Ⅱ and ERK / p-ERK were determined by Western Blot. Results : Compared with Sham group，serum LDH level of mice in I / R group was significantly increased，protein expressions of Epac1， Rap1 and CaMK Ⅱ in myocardial tissue were significantly up-regulated，and ERK1 /2 phosphorylation level was decreased．Compared with I / R group，vitexin (3，6，12 mg / kg) pretreatment group decreased serum LDH level，inhib- ited Epac1，Rap1 and CaMK Ⅱ protein expression in mouse myocardial tissue，and promoted ERK1 /2 phosphoryla- tion(P＜0. 05 or P＜0. 01) ．The histopathological results showed that the myocardial fibers in the I / R group were disordered and broken，with increased gaps and obvious inflammatory cell infiltration．In the vitexin treatment group，the myocardial fibers were arranged more neatly and inflammatory cells were infiltrated less. Conclusion Vitexin may regulate Epac1 / CaMK Ⅱ signaling pathway，down-regulate CaMK Ⅱ protein expression，increase ERK phosphorylation，and effectively reduce MIRI.

Objective:To survey the knowledge levels of sudden cardiac death (SCD) prevention among general practitioners (GPs) in Henan province.Methods:From October to November 2019, a questionnaire survey on the knowledge of SCD prevention and treatment was conducted among GP residents participating in the standardized training and assistant GPs taking final examination after training in Henan province. The questionnaire included three dimensions of SCD knowledge: prevention, early diagnosis and first aid. The factors influencing the knowledge levels on SCD prevention were analyzed.Results:A total of 546 questionnaires were distributed and 519 responders (95.1%) completed the questionnaire, including 176 GP residencies and 343 assistant GPs. The age of the respondents was 22-44 (27.91±2.84) years, 234 (45.1%) were males and 285 were females. The overall correct rate of SCD prevention and treatment was (61.46±12.39) %, and the correct rates of prevention, early diagnosis and first aid knowledge were (65.22±17.88)%, (56.58±20.20)% and (62.57±14.60)%, respectively. The overall correct rate and the correct rates of SCD prevention and treatment knowledge among GP residents were higher than those among assistant GPs ( t=10.55, 9.20, 8.62, 3.42, P<0.001); the overall correct rates and the correct rates of SCD first aid knowledge of female GPs were higher than those of males ( t=2.26, 2.13, P=0.025, 0.033); the overall correct rate and the correct rates of each dimensions in age group ≥28 years were higher than those in age group <28 years ( t=4.21, 3.37, 3.20, 2.00, P<0.05). The multivariate logistic regression analysis showed that compared to GP residents,the assistant GPs was the factor influencing the lower levels of the overall knowledge ( OR=0.24, 95 %CI:0.16-0.38, P<0.001), knowledge of prevention ( OR=0.19, 95 %CI:0.10-0.32, P<0.001) and knowledge of early diagnosis ( OR=0.35, 95 %CI: 0.23-0.52, P<0.001);compared to male responders,the females had significantly higher pass rate in SCD first aid knowledge ( OR=1.56, 95 %CI:1.07-2.28, P=0.020). Conclusions:The SCD knowledge levels of the prevention, early diagnosis, and emergency treatment are less satisfactory among GPs in Henan province; it is necessity for targeted training on the weak points of SCD knowledge for GPs.

Objective:To investigate the serum level of insulin-like growth factor binding protein 7 (IGFBP7) in patients with gastric cancer and its diagnostic significance.Methods:A total of 100 gastric cancer patients (gastric cancer group) including 49 patients with early gastric cancer (early gastric cancer group) , who were hospitalized in Sun Yat-sen University Cancer Center from May to December 2019 were selected as the research subjects, and 94 physical examination subjects during the same period were selected as the normal control group. The levels of serum IGFBP7 were detected by enzyme-linked immunosorbent assay. At the same time, the laboratory carcinoembryonic antigen (CEA) test results were collected. The relationships between the level of serum IGFBP7 and the clinicopathological features of gastric cancer patients were analyzed. The diagnostic value was evaluated by receiver operating characteristic (ROC) curve.Results:The level of serum IGFBP7 in the gastric cancer group was (1.595±0.159) ng/ml, and that in the normal control group was (1.850±0.328) ng/ml, with a statistically significant difference ( t=-0.26, P<0.001) , and among them, the level of serum IGFBP7 in the early gastric cancer group was (1.601±0.153) ng/ml, and there was a statistically significant difference compared with the normal control group ( t=-0.26, P<0.001) . The level of serum CEA in the gastric cancer group was 2.230 (2.043) ng/ml, and that in the normal control group was 1.805 (1.020) ng/ml, with a statistically significant difference ( U=0.45, P=0.004) , and among them, the level of serum CEA in the early gastric cancer group was 2.220 (1.780) ng/ml, and there was a statistically significant difference compared with the normal control group ( U=0.53, P=0.002) . There were no significant correlations between IGFBP7 and CEA level ( χ2=0.36, P=0.547) , age ( χ2=0.16, P=0.688) , gender ( χ2=0.97, P=0.326) , depth of invasion ( χ2=0.30, P=0.585) , lymph node metastasis ( χ2=0.17, P=0.684) , distant metastasis ( χ2=0.09, P=0.767) and TNM stage ( χ2=0.38, P=0.537) . ROC curve analysis showed that the area under the curve (AUC) of IGFBP7 for gastric cancer diagnosis was 0.84 (95% CI: 0.78-0.89) , the AUC of CEA for gastric cancer diagnosis was 0.62 (95% CI: 0.54-0.70) , and there was a statistically significant difference ( Z=4.33, P<0.001) . The AUC of IGFBP7 combined with CEA for gastric cancer diagnosis was 0.85 (95% CI: 0.79-0.90) . Compared with CEA alone, there was a statistically significant difference ( Z=4.97, P<0.001) . Compared with IGFBP7 alone, there was no statistically significant difference ( Z=1.41, P=0.159) . The AUC of IGFBP7 in the diagnosis of early gastric cancer was 0.84 (95% CI: 0.78-0.91) , the AUC of CEA in the diagnosis of early gastric cancer was 0.66 (95% CI: 0.56-0.75) , and there was a statistically significant difference ( Z=3.11, P=0.002) . The AUC of IGFBP7 combined with CEA in the diagnosis of early gastric cancer was 0.85 (95% CI: 0.78-0.91) . Compared with CEA alone, there was a statistically significant difference ( Z=3.54, P<0.001) . Compared with IGFBP7 alone, there was no statistically significant difference ( Z=1.19, P=0.232) . Conclusion:The serum IGFBP7 level of gastric cancer patients is lower than that of normal controls. Compared with CEA, serum IGFBP7 has better diagnostic value for gastric cancer.