Both cathartic colon （CC） and cathartic-dependent constipation （CDC） are caused by the abuse of stimulant laxatives， while their concepts are not completely the same.Starting from the disease name of CC， this article traced the origin and evolution of the concept of CC， summarizes and compared the similarities and differences between CC， CDC， and slow transit constipation （STC）， and called for strict differentiation among the three.Furthermore， this article explored the specific contents of Western medicine clinical subtypes and traditional Chinese medicine （TCM） syndrome differentiation of CDC and delved into the TCM pathogenesis of CDC according to both literature and clinical practice.The relationship between clinical subtypes and TCM syndromes was established， and the syndrome characteristics of CDC of different clinical subtypes and TCM syndromes were summarized.The recommended prescriptions for corresponding syndromes were listed.A systematic CDC diagnosis and treatment approach of "clinical subtypes-syndrome differentiation-syndrome characteristics-recommended prescriptions" was thus formed.Additionally， the paper provides an overview of current research on CDC in both Western medicine and TCM contexts， identifies future research directions， and suggests research pathways for refining and advancing CDC studies.

Objective To compare the differences in alkaloids between Nelumbinis Semen and Nelumbinis Plumula and their inhibitory effects on the proliferation of HepG2 cells, and investigate the material basis for their anti-cancer activity differences. Methods Simultaneous Thermal Analysis was used to preliminarily compare the component differences between Nelumbinis Semen and Nelumbinis Plumula. Alkaloids were extracted from them by both using reflux extraction, and their contents were measured by UV and HPLC methods. The CCK-8 method was used to assess the in vitro inhibitory effects of the alkaloids on the HepG2 cells, and to verify pharmacological differences. Results Simultaneous thermal analysis revealed distinct peak shapes, positions, and sizes in the thermal analysis curves of Nelumbinis Semen and Nelumbinis Plumula at respective temperature stages. The contents of total alkaloids showed as follows: the total alkaloids in Nelumbinis Plumula > total extract of Nelumbinis Plumula > the total alkaloids in Nelumbinis Semen. The total alkaloids in Nelumbinis Plumula effectively inhibited HepG2 cell proliferation, while the total alkaloids in Nelumbinis Semen showed no impact. Conclusion Differences in the composition and content of alkaloids may be key factors underlying the biological activities differences between Nelumbinis Semen and Nelumbinis Plumula. This study provided a basis for exploring the material foundation of the differential efficacy and properties of Nelumbinis Semen and Nelumbinis Plumula, which could support their rational clinical application.

Cornelia de Lange syndrome is a rare congenital malformation disease,and its typical features include growth restriction,mental retardation,craniofacial abnormality and hirsutism.This study reported 2 cases of CdLS patients,summarized their clinical manifestations and gene mutation characteristics,and the relevant literatures were reviewed.Patient 1,a 5-year-old girl,was admitted to the hospital due to growth retardation.Physical examination revealed hirsutism,monobrow,small and sparse teeth,hemangiomas(approximately 2 cm×2 cm)on the chest and back,delayed language development,and intellectual disability.The height was 98 cm[≤-2 standard deviation(SD)],the weight was 15 kg(-2SD--1SD),the head circumference was 46 cm(-3SD--2SD).Brain magnetic resonance imaging(MRI)plain scan showed slightly enlarged left lateral ventricle and bilateral lateral ventricle triangles,slightly thickened bilateral maxillary sinus and ethmoid sinus mucosa.Echocardiography revealed mild regurgitation of the mitral and tricuspid valves.Patient 2,a 1-month-old girl,was admitted to the hospital due to postpartum shortness of breath.The physical examination highlighted hirsutism,short nose,soft cleft palate,dysphagia,positive three-concave sign,audible throat sound,small hands,palm penetration in the left hand,short fifth finger of the right hand,limited right hip abduction,foot varus,and a white spot at the bottom of the right eye.Ultrasonography at 1 month showed mild regurgitation of the tricuspid valve and an open foramen ovale.Brain MRI at 2 d showed a few patchy low-signal shadows in the longitudinal fissure cistern and tentorium,a small amount of subarachnoid hemorrhage,and a small amount of fluid in the bilateral maxillary sinus,ethmoid sinus,and middle ear mastoid.No obvious structural or numerical abnormalities were observed in the chromosome karyotypes.Whole-exome sequencing detected a heterozygous variation of c.6653_6655del in the NIPBL gene in patient 1 and a heterozygous variation of c.337C＞T in the NIPBL gene in patient 2.These variations were not found in their parents.The study revealed that NIPBL gene variation could be the genetic cause of the two patients with CdLS.The identification of the variation c.337C＞T may expand the variation spectrum of the NIPBL gene,providing valuable insights into the pathogenic genetic basis of CdLS.

OBJECTIVE: To analyze the clinical manifestations and genotype of a child with You-Hoover-Fong syndrome (YHFS) to enhance clinical understanding of this disease. METHODS: Clinical data of a child who visited the Department of Pediatric Neurorehabilitation of the Women's and Children's Hospital Affiliated to Xiamen University in March 2025 for global developmental delay was collected. Peripheral blood samples of the child and his parents were collected for chromosomal microarray analysis and whole exome sequencing (WES). Sanger sequencing was performed for parental validation, and candidate variant was assessed for pathogenicity. Clinical and genetic analyses were conducted based on the child's phenotype. A literature review was performed by retrieving previously reported cases of YHFS due to TELO2 gene variants. This study was approved by the Medical Ethics Committee of the Women's and Children's Hospital Affiliated to Xiamen University (Ethics No.: KY-2023-044-K02). RESULTS: The child was a 1-year-and-2-month-old male presenting with global developmental delay, encephalodysplasia, congenital heart disease and distinctive facial features. WES revealed that the child has harbored compound heterozygous variants of the TELO2 gene, namely c.1826G>A (p.Arg609His) and c.1514_1515delAG (p.Glu505Alafs21). Sanger sequencing confirmed that his mother carried a heterozygous c.1826G>A variant and his father carried a heterozygous c.1514_1515delAG variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as likely pathogenic (PM2_Supproting+PM3_Strong+PP1+PP3; PVS1+PM2_Supproting). Literature review has identified 9 articles reporting 31 cases of YHFS due to TELO2 gene variants, with primary clinical manifestations including developmental delay, intellectual disability, distinctive facial features, and congenital heart disease. CONCLUSION The c.1826G>A (p.Arg609His) and c.1514_1515delAG (p.Glu505Alafs*21) compound heterozygous variants of the TELO2 gene probably underlay the pathogenesis of this child. Above finding has provided a basis for the clinical and genetic diagnosis of the child, which also enriched the mutational spectrum of the TELO2 gene, and improved understanding of YHFS.
Humans ; Male ; Infant ; Heterozygote ; Developmental Disabilities/genetics* ; Female ; Exome Sequencing ; Mutation ; Phenotype ; Abnormalities, Multiple/genetics* ; Child, Preschool

ObjectiveTo investigate the correlation between genetic polymorphism of heat shock proteins 70 (HSP70) and susceptibility to occupational noise-induced hearing loss (ONIHL). Methods A total of 229 ONIHL workers were selected as the case group and 229 healthy workers with similar age, years of noise exposure, and noise exposure levels were selected as the control group using the case-control study method. Occupational health examinations were conducted on both groups, and peripheral blood of individuals was collected for DNA extraction. The genotypes of three single nucleotide polymorphisms of the HSP70 were detected using the MassArray system. Results The allele frequency distribution of HSP70 rs2227956, rs1043618, and rs1061581 in the control group was in Hardy-Weinberg equilibrium (all P>0.05). The genotype and allele frequency distribution of rs2227956 was significantly different between the two groups (all P<0.05), while no significant difference was found for rs1043618 and rs1061581 (all P>0.05). After adjusting for age, years of noise exposure, individual noise exposure level, smoking, and drinking, individuals with AG and AG+GG genotypes of rs2227956 had a higher risk of ONIHL than those with AA genotype (all P<0.05). The risk of ONIHL was higher in individuals with G allele of rs2227956 than in those with A allele (P<0.05). No correlation was found between rs1043618 and rs1061581 polymorphisms and the risk of ONIHL (all P>0.05). Conclusion The rs2227956 polymorphism of the HSP70 gene is correlated with susceptibility to ONIHL in noise-exposed workers, and the G allele is a risk factor for ONIHL in this population.

Objective:To investigate the satisfaction of clinical interns to the department and teachers under the merging mode of standardized residency training and clinical practice, and to explore the feasibility to further implement the mode in clinical practice.Methods:Cluster sampling was used to design the scale, which included the importance attached by department to the teaching work, the rationality of the arrangement of practice content, the implementation of teaching activities, the quality of teaching activities, the status of out-department examination, the demonstration of medical ethics of teachers, the teaching attitude and knowledge lecturing of teachers, the revision of medical records and the guidance of skills operation, etc. The questionnaire survey was conducted among clinical interns in a hospital from July 2018 to June 2019. SPSS 22.0 was used to conduct t test or rank sum test of two independent samples, and the analysis of multiple groups of data was performed by means of variance analysis. Results:A total of 1 230 questionnaires were sent out, and 1 195 were returned, with an effective recovery rate of 97.15%. The overall satisfaction of interns was (9.62±0.39). The interns gave the highest evaluation on the medical ethics and medical style of the teacher (9.75±0.78), and the lowest evaluation on the teaching quality of all departments (9.52±1.15). There were significant differences among the evaluations ( F=7.30, P<0.001). Conclusion:Under the merging mode of standardized residency training and clinical practice management, all teaching and research sections and departments have fulfilled various teaching tasks according to the requirements, but the teaching quality and connotation construction need to be further strengthened.

The binding of talin-F0 domain to ras-related protein 1b (Rap1b) plays an important role in the formation of thrombosis. However, since talin is a force-sensitive protein, it remains unclear whether and how force regulates the talin-F0/Rap1b interaction. To explore the effect of force on the binding affinity and the dynamics mechanisms of talin-F0/Rap1b, molecular dynamics simulation was used to observe and compare the changes in functional and conformational information of the complex under different forces. Our results showed that when the complex was subjected to tensile forces, there were at least two dissociation pathways with significantly different mechanical strengths. The key event determining the mechanical strength difference between the two pathways was whether the β4 sheet of the F0 domain was pulled away from the original β1-β4 parallel structure. As the force increased, the talin-F0/Rap1b interaction first strengthened and then weakened, exhibiting the signature of a transition from catch bonds to slip bonds. The mechanical load of 20 pN increased the interaction index of two residue pairs, ASP ⁵⁴-ARG ⁴¹ and GLN ¹⁸-THR ⁶⁵, which resulted in a significant increase in the affinity of the complex. This study predicts the regulatory mechanism of the talin-F0/Rap1b interaction by forces in the intracellular environment and provides novel ideas for the treatment of related diseases and drug development.
Molecular Dynamics Simulation ; Talin

Objective To measure the specificactivity of natural and synthetic radionuclides in the environmental soil of Panjin, China and determine the content of radionuclides in the surface soil, and to conduct a scientific assessment of the radiation health risks of residents in this area. Methods Thirty-one surface soil samples were collected within the jurisdiction of Panjin, and a high-purity germanium detector was used for γ spectrum analysis to obtain the content of radionuclides and the current environmental radioactivity level. The two independent samples mean t-test was used to compare the specific activity data of radionuclides in soil samples between Panjin and Liaoning Province or China. Results The meanspecific activities of natural radionuclides ²³⁸U, ²²⁶Ra, ²³²Th, ⁴⁰K, and synthetic radionuclide ¹³⁷Cs in the surface soil samples of Panjin were 18.7 Bq/kg, 19.6 Bq/kg, 23.5 Bq/kg, 604.6 Bq/kg, and 0.9 Bq/kg, respectively. Conclusion The specific activities of natural and synthetic radionuclides in the surface soil samples of Panjin Area at the background level, causing a very low health risk to the people in this area.

Alzheimer's disease (AD) is the most common form of dementia in the elderly, and there is no specific treatment to stop or reverse its progression. Mild cognitive impairment (MCI) is an important entry point for early diagnosis and prevention of AD. More and more studies have explored the risk factors and biomarkers for conversion from MCI to AD, and a series of risk prediction models have been established. This article analyzes and summarizes the different predictors and risk prediction models so as to provide basis for early identifying the high-risk group of AD, managing the controllable risk factors, and providing references for the selection and improvement of these models.

Objective:This study aimed to explore variables associated with remission rate and survival in patients with acute myeloid leukemia (AML) after induction failure and relapse.Methods:Data of 373 consecutive patients with AML were analyzed after induction failure and relapse. Binary logistics and the Cox model regression were used to identify variables associated with remission rate and outcomes.Results:In patients with AML after induction failure and relapse, the total CR+CRi rates were 50.6% and 40.3%, respectively; among those who achieved CR/CRi, the 3-year RFS rates were 34.4% and 30.4%, respectively, and the 3-year overall survival rates were 40.1% and 31.6%, respectively. In the multivariate analyses, using CLAG or FLAG regimen as a re-induction chemotherapy regimen, age <39 years and SWOG low-risk were significantly associated with higher remission rates in patients with induction failure. Male, secondary AML, SWOG high-risk, the interval from the first remission to relapse within 12 months, and bone marrow blasts ≥20% at the time of relapse were significantly associated with lower remission rates in relapsed patients. Transplantation was significantly associated with prolonged relapse-free survival and overall survival in patients achieving hematologic remission; the SWOG low-risk group was significantly associated with longer overall survival in those with induction failure; and achieving CR (not CRi) or having female gender was associated with longer RFS or overall survival in relapsed patients.Conclusion:Reinduction chemotherapy regimen, age, gender, SWOG risk, secondary AML, the interval from the first remission to relapse, and bone marrow blast percentage at the time of relapse were significantly associated with remission rates in the patients with AML after induction failure and relapse. Transplantation, SWOG low-risk, achieving CR, or female gender were associated with longer survivals in those achieving remission.