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 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

Polycystic ovary syndrome (PCOS) is a common reproductive and metabolic disorder, with symptoms of menstrual disorders, hirsutisms, acne, and obesity. Studies have found that PCOS patients have a higher prevalence of anxiety, depression and sleep disorders than non-PCOS women, which may be related to the abnormal innervation. Meanwhile, it has been found that PCOS patients exhibit lower central level and higher peripheral levels of monoamine neurotransmitters (5-hydroxytryptamine, dopamine and norepinephrine). These imbalances can affect various clinical manifestations of PCOS, including the formation and development of metabolic and reproductive disorders, as well as anxiety and sleep disorders, through multiple pathways. This review summarizes recent research progress on the role of monoamine neurotransmitters in the physiological characteristics and clinical manifestations of PCOS patients, aiming to provide new insights into the neuroendocrine characteristics and pathogenesis of the syndrome.

Polycystic ovary syndrome (PCOS) is a common reproductive and metabolic disorder, with symptoms of menstrual disorders, hirsutisms, acne, and obesity. Studies have found that PCOS patients have a higher prevalence of anxiety, depression and sleep disorders than non-PCOS women, which may be related to the abnormal innervation. Meanwhile, it has been found that PCOS patients exhibit lower central level and higher peripheral levels of monoamine neurotransmitters (5-hydroxytryptamine, dopamine and norepinephrine). These imbalances can affect various clinical manifestations of PCOS, including the formation and development of metabolic and reproductive disorders, as well as anxiety and sleep disorders, through multiple pathways. This review summarizes recent research progress on the role of monoamine neurotransmitters in the physiological characteristics and clinical manifestations of PCOS patients, aiming to provide new insights into the neuroendocrine characteristics and pathogenesis of the syndrome.

Objective:To construct a continuity of care plan for adolescent fixed orthodontic patients based on the theory of timing, and provide systematic and standardized nursing interventions for adolescent fixed orthodontic patients.Methods:Guided by the theory of timing, preliminary plan items were formulated through literature review and questionnaire survey. Using the Delphi method, 15 experts were consulted for two rounds to determine the continuity of care plan for adolescent fixed orthodontic patients from October to December, 2023.Results:The effective response rates of the two rounds of questionnaires were 15/15, respectively. The expert authority levels were 0.93 and 0.94, and the Kendall harmony coefficients were 0.28 and 0.38, respectively. The differences were statistically significant (both P<0.001). The final established plan included 5 primary indicators, 23 secondary indicators, and 47 tertiary indicators. Conclusions:The continuity of care plan for adolescent fixed orthodontic patients based on the timing theory is reliable and scientific, and can meet the continuity of care needs of patients at different stages, providing reliable clinical basis for carrying out continuity of care.

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.

Purpose To evaluate the diagnostic value of an abbreviated protocol MRI(AP-MRI)based on first post-contrast subtracted(FAST)images for breast cancer detection.Materials and Methods This study included imaging data from 160 female patients with solid breast lesions who underwent breast MRI in the First Affiliated Hospital of Henan University of Chinese Medicine from April 2021 to January 2024.Two AP-MRI protocols were extracted from the full diagnostic protocol(FDP),including:dynamic contrast-enhanced MRI(DCE-MRI)A protocol:FAST and maximum-intensity projection(MIP)images,and DCE-MRI B protocol:FAST+MIP+diffusion-weighted imaging(DWI).Lesions categorized as breast imaging reporting and data system(BI-RADS)1-3 were classified as negative,and those categorized as BI-RADS 4-5 were classified as positive.Pathological findings served as the diagnostic gold standard.Two radiologists independently evaluated the lesions as negative/positive and compared with the gold standard.The sensitivity,specificity and accuracy of the three protocols were compared.Receiver operating characteristic curves were generated for each protocol,and the area under the curve(AUC)was compared.Results The accuracy of the three protocols showed statistically significant differences(Cochran's Qreader1=6.000,P=0.050;Cochran's Qreader2=10.909,P=0.012).The accuracy of the DCE-MRI A protocol was significantly lower than that of the FDP protocol(Z=2.449,Preader1=0.043;Z=2.858,Preader2=0.013).There were no statistically significant differences in sensitivity(Cochran's Qreader1=3.000,P=0.223;Cochran's Qreader2=2.667,P=0.264)or specificity(Cochran's Qreader1=3.000,P=0.223;Cochran's Qreader2=2.800,P=0.247)between the two AP-MRI protocols and the FDP protocol.There were no statistically significant differences in AUC between the DCE-MRI B protocol and the FDP protocol(Z=1.390-1.719,all P>0.05),while the AUC of the DCE-MRI A protocol had lower AUCs than the FDP protocol(Z=1.980,2.441;both P<0.05).Conclusion The AP-MRI protocol combining FAST,MIP and DWI shows diagnostic accuracy comparable to that of the FDP and greatly saves time and cost,suggesting its potential as an alternative imaging strategy for women with dense breasts and as a new diagnostic approach for high-risk populations.

Purpose To evaluate the diagnostic value of an abbreviated protocol MRI(AP-MRI)based on first post-contrast subtracted(FAST)images for breast cancer detection.Materials and Methods This study included imaging data from 160 female patients with solid breast lesions who underwent breast MRI in the First Affiliated Hospital of Henan University of Chinese Medicine from April 2021 to January 2024.Two AP-MRI protocols were extracted from the full diagnostic protocol(FDP),including:dynamic contrast-enhanced MRI(DCE-MRI)A protocol:FAST and maximum-intensity projection(MIP)images,and DCE-MRI B protocol:FAST+MIP+diffusion-weighted imaging(DWI).Lesions categorized as breast imaging reporting and data system(BI-RADS)1-3 were classified as negative,and those categorized as BI-RADS 4-5 were classified as positive.Pathological findings served as the diagnostic gold standard.Two radiologists independently evaluated the lesions as negative/positive and compared with the gold standard.The sensitivity,specificity and accuracy of the three protocols were compared.Receiver operating characteristic curves were generated for each protocol,and the area under the curve(AUC)was compared.Results The accuracy of the three protocols showed statistically significant differences(Cochran's Qreader1=6.000,P=0.050;Cochran's Qreader2=10.909,P=0.012).The accuracy of the DCE-MRI A protocol was significantly lower than that of the FDP protocol(Z=2.449,Preader1=0.043;Z=2.858,Preader2=0.013).There were no statistically significant differences in sensitivity(Cochran's Qreader1=3.000,P=0.223;Cochran's Qreader2=2.667,P=0.264)or specificity(Cochran's Qreader1=3.000,P=0.223;Cochran's Qreader2=2.800,P=0.247)between the two AP-MRI protocols and the FDP protocol.There were no statistically significant differences in AUC between the DCE-MRI B protocol and the FDP protocol(Z=1.390-1.719,all P>0.05),while the AUC of the DCE-MRI A protocol had lower AUCs than the FDP protocol(Z=1.980,2.441;both P<0.05).Conclusion The AP-MRI protocol combining FAST,MIP and DWI shows diagnostic accuracy comparable to that of the FDP and greatly saves time and cost,suggesting its potential as an alternative imaging strategy for women with dense breasts and as a new diagnostic approach for high-risk populations.

Objective:To construct a continuity of care plan for adolescent fixed orthodontic patients based on the theory of timing, and provide systematic and standardized nursing interventions for adolescent fixed orthodontic patients.Methods:Guided by the theory of timing, preliminary plan items were formulated through literature review and questionnaire survey. Using the Delphi method, 15 experts were consulted for two rounds to determine the continuity of care plan for adolescent fixed orthodontic patients from October to December, 2023.Results:The effective response rates of the two rounds of questionnaires were 15/15, respectively. The expert authority levels were 0.93 and 0.94, and the Kendall harmony coefficients were 0.28 and 0.38, respectively. The differences were statistically significant (both P<0.001). The final established plan included 5 primary indicators, 23 secondary indicators, and 47 tertiary indicators. Conclusions:The continuity of care plan for adolescent fixed orthodontic patients based on the timing theory is reliable and scientific, and can meet the continuity of care needs of patients at different stages, providing reliable clinical basis for carrying out continuity of care.