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 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.

Objective:To observe any therapeutic effect of combining botulinum toxin type A (BTX-A) with rehabilitation training in treating Parkinson′s disease (PD) patients with striatal foot deformity (SFD).Methods:A total of 68 PD patients with SFD were randomly divided into a control group and a treatment group. Both groups were given routine medication with pramipexole and dopamine receptor agonists and received lower limb rehabilitation training, including passive activity training, strength training and walking training. The treatment group was additionally injected with BTX-A. Sciatic pain was quantified using a visual analogue scale. The Unified Parkinson′s Disease Rating Scale-lower limb motor lower limb motor function (UPDRS-LLM) scale, the Berg balance scale and the modified Barthel index were applied to test all of the participants before the experiment and on the 7th, 14th and 30th day of the treatment.Results:The average scores of the control group on all of measures at were significantly better than those of the control group at the same time points, and by the 14th and 30th day had improved significantly compared with those before treatment.Conclusion:Supplementing rehabilitation training with BTX-A can significantly improve foot deformity and relieve the muscle tension and spastic pain of PD patients with SFD, promoting the motor functioning of their lower limbs, their balance and their performance in the activities of daily living.

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 explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics. RESULTS: The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing. CONCLUSION The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.
Abnormalities, Multiple/genetics* ; Autism Spectrum Disorder/genetics* ; Autistic Disorder/genetics* ; Child ; Heterozygote ; Homeodomain Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Rare Diseases

Macrophages are widely distributed immune cells that contribute to tissue homeostasis. Human THP-1 cells have been widely used in various macrophage-associated studies, especially those involving pro-inflammatory M1 and anti-inflammatory M2 phenotypes. However, the molecular characterization of four M2 subtypes (M2a, M2b, M2c, and M2d) derived from THP-1 has not been fully investigated. In this study, we systematically analyzed the protein expression profiles of human THP-1-derived macrophages (M0, M1, M2a, M2b, M2c, and M2d) using quantitative proteomics approaches. The commonly and specially regulated proteins of the four M2 subtypes and their potential biological functions were further investigated. The results showed that M2a and M2b, and M2c and M2d have very similar protein expression profiles. These data could serve as an important resource for studies of macrophages using THP-1 cells, and provide a reference to distinguish different M2 subtypes in macrophage-associated diseases for subsequent clinical research.
Humans ; Macrophages/metabolism* ; Phenotype ; Proteomics ; THP-1 Cells

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*

OBJECTIVE: To explore the genetic etiology for an infant featuring convulsive status epilepticus, developmental delay and elevated plasma lactate. METHODS: Whole exome sequencing and mitochondrial D-loop sequencing were carried out for the infant. Candidate variants were verified by Sanger sequencing. Previously reported FARS2 gene variants were searched from the PubMed, Wanfang and CNKI databases. RESULTS: The infant was found to harbor compound heterozygous variants of the FARS2 gene, namely c.925G>A (p.G309S) and c.405C>A (p.H135Q), which were inherited from its mother and father, respectively. The former has been recorded by the HGMD as a pathogenic variant, whilst the latter was predicted to be likely pathogenic based on the guidelines of the American College of Medical Genetics and Genomics. A total of 30 COXPD14 cases were retrieved from the literature, with common mutations including missense variants, in-frame deletions, splice-site variants and large deletions. CONCLUSION The common manifestations of COXPD14 have included developmental delay (96%), status epilepticus (97%) and increased lactic acid (96%). The compound heterozygous variants of the FARS2 gene probably underlay the disorder in this child.
Female ; Humans ; Infant ; Genetic Testing ; Mitochondrial Diseases ; Mitochondrial Proteins/genetics* ; Phenylalanine-tRNA Ligase ; Status Epilepticus ; Exome Sequencing

Objective:To investigate the effects of different lipid-lowering regimens on blood lipids, endothelial function and safety in patients with unstable angina.Methods:Patients who admitted to Henan Provincial People's Hospital for unstable angina from September 2018 to May 2019 were randomly (random number) divided into the conventional treatment group, intensive statin group and intensive lipid-lowering group. Follow-up was performed at 1, 3, and 6 months after treatment according to the predetermined lipid-lowering regimen. Assessments included lipid profile, liver function, muscle enzymes, hypersensitive C-reactive protein (hs-CRP), endothelial function (reactive hyperemia index, RHI), ischemic events, myalgia, and discontinuation. The differences of the follow-up indicators among the three groups were analyzed.Results:A total of 375 patients were enrolled and randomly divided into three groups, 125 patients in each group. There were no significant differences in demographic data and medication among the three groups. At the 1st month, the low density lipoprotein cholesterin (LDL-C) compliance rate of the intensive statin group was significantly higher than those in the conventional treatment group ( χ2=3.939, P=0.047) and the intensive lipid-lowering group ( χ2=4.63, P=0.031). At the 3rd month, the reductions of LDL-C in the intensive statin group and the intensive lipid-lowering group were significantly better than that in the conventional treatment group( P<0.01). At the 6th month, the reduction rate of LDL-C in the intensive lipid-lowering group was higher than that in the intensive statin group ( q=4.332, P<0.01). At the 1st month, the improvement of hs-CRP and RHI in the intensive statin group was significantly better than that in the conventional treatment group( q=4.133, P<0.05). From the 3rd month of treatment, the incidence of cardiovascular events in the intensive statin group and the intensive lipid-lowering group showed a tendency to decrease compared with the conventional treatment group, but no statistically significant difference was found. At the 6th months of treatment, the withdrawal rates were significantly higher in the intensive statin group and the intensive lipid-lowering group than that in the conventional treatment group (χ 2=4.488, P=0.03 and χ2=5.039, P=0.02). There were no significant differences in the ratio of liver enzyme and muscle enzyme elevation and the incidence of myalgia among the three groups (all P>0.05). Conclusions:Intensive statin therapy can make LDL-C reach the standard in patients with unstable angina pectoris as soon as possible, significantly improve inflammation indicators and endothelial function, and has good safety.

OBJECTIVE: To explore the genetic basis for a child featuring short stature. METHODS: G-banded karyotyping, chromosomal microarray analysis (CMA) and high-throughput sequencing were carried out on peripheral blood sample from the child. RESULTS: The karyotype of the child was ascertained as 45,XY,-4[3]/46,XY,r(4)(p16q35)[84]/47,XY,-4,r(4)(p16q25)*2[7]/48,XY,-4,r(4)(p16q35)*3[1]/46,XY,dic r(4;4)(p16q35;p16q35)[2]/46,XY,add(4)(p16)[3]. A 647 kb deletion at 4p16.3 was identified by CMA, which encompassed 6 OMIM genes including ZNF141, PIGG, PDE6B, ATP5I, PCGF3 and MYL5. High-throughput sequencing has identified no pathogenic/likely pathogenic variants consistent with the clinical symptoms. CONCLUSION A rare ring chromosome 4 syndrome was identified by combined chromosomal karyotyping, CMA and high-throughput sequencing. Conventional cytogenetic analysis and genetic testing in combine have enabled the diagnosis in this case.