Objective:To explore the genotype and the clinical phenotype of SCN2A-related developmental delay in children. Methods:A case series study was adopted. Collect clinical data from 10 cases of children with SCN2A gene variants diagnosed with global developmental delay/intellectual disability who were admitted to the Children′s Hospital between July 2019 and March 2023. Summarize the clinical phenotype and genotype based on clinical data such as general information, clinical manifestations, imaging examinations, laboratory tests, genetic testing results, and comprehensive pediatric neuropsychological development assessment. Results:A total of 10 patients were recruited, including 7 males and 3 females, with an age range of 27 days to 5 years and 9 months. 9 patients underwent children′s neuropsychological and behavioral assessments, and the results were consistent with global developmental delay, including 2 mild cases, 4 moderate cases, and 3 severe cases. 3 cases had autism spectrum disorder, and 2 cases had epilepsy. 6 patients underwent complete head MRI examination, and 4 of them showed abnormalities, including delayed myelination, widening of the local extra brain space in the frontal lobe, and abnormal frontal lobe morphology. All 10 cases had point variants. Among them, 9 cases are de novo and 1 case is maternal inheritance. Out of 10 cases, there were 5 cases with copy number variations, but all of them were of unknown significance. Among the 10 variants, 8 have been reported and 2 have not been reported, namely c.4145A>T(p.N1382I) and c.4937T>A(p.I1646N). In this study, 4 out of 10 patients with SCN2A variants had variation sites located in the S4 segment of domain which constitute Nav1.2, the sodium ion channel encoded by SCN2A. The developmental quotient level was lower when the variation sites were located in the S4 segment of domain, and the difference was statistically significant ( t=-3.101, P=0.017), indicating that the severity of developmental delay may be related to the localization of amino acids corresponding to variant sites within the protein domain. Conclusion:SCN2A mutations are strongly associated with diverse neurodevelopmental disorders. In this study, the phenotypic spectrum of SCN2A variants encompassed epilepsy, global developmental delay, and autism spectrum disorder. Affected individuals exhibited early-onset developmental delays, predominantly moderate to severe in severity. Voltage-sensing domain dysfunction in sodium channels may constitute a critical pathomechanism underlying neurodevelopmental impairments. Further electrophysiological characterization and molecular mechanistic studies are warranted todelineate the genotype-phenotype correlations between specific variant loci and clinical severity.

Objective:To explore the potential profile characteristics of cancer-related worries in patients after surgery for early-stage lung cancer, and the influencing factors of different categories, provide reference for patients to formulate individualized rehabilitation programs and psychological intervention measures.Methods:A cross-sectional survey method was used to conveniently select patients who received outpatient follow-up after lung cancer surgery at Shanghai Pulmonary Hospital Affiliated to Tongji University from October 2022 to October 2023 as the survey subjects. The general information questionnaire, the Chinese version of Brief Cancer-related Worry Inventory, the Chinese version of the MD Anderson Symptom Inventory, Brief Illness Perception Questionnaire, 10-item Connor Davidson Resilience Scale and Medical Coping Modes Questionnaire were examined. Latent profile analysis was performed on the cancer-related worry scores of lung cancer surgery patients, and its influencing factors were explored by binary Logistic regression analysis.Results:A total of 302 patients after lung cancer surgery were included, including 111 males and 191 females, aged 18-83(52.73 ± 13.07) years, and the Chinese version of the Brief Cancer-related Worry Inventory scored 380.00 (130.00, 720.00) points. The cancer-related worry of patients after lung cancer surgery could be divided into two potential profile categories: "high worry type" (138 patients accounted for 45.70%) and "low worry type" (164 patients accounted for 54.30%). Symptom burden ( OR=1.055, 95% CI 1.039-1.072), illness perception ( OR=1.190, 95% CI 1.127-1.256), resilience ( OR=0.933, 95% CI 0.886-0.983), and coping modes of confrontation ( OR=0.857, 95% CI 0.757-0.971) and acceptance-resignation ( OR=1.247, 95% CI 1.050-1.481) were influencing factors for grouping cancer related worry profiles (all P<0.05). Conclusions:There was significant heterogeneity in the level of cancer-related worries among patients after surgery for early-stage lung cancer. It is recommended that medical staff provide targeted continuity care measures based on the characteristics of worries of different categories of patients to improve patients' postoperative mental health and quality of life.

Objective:To explore the potential categories of symptom characteristics of early breast cancer patients undergoing postoperative chemotherapy, analyze the differences of symptoms among different categories of patients, and compare their quality of life according to different categories.Methods:This was a cross-sectional study. From January to June 2023, 240 patients with early breast cancer who received chemotherapy after surgery in General Hospital of Ningxia Medical University were selected by convenience sampling. They were investigated by general information questionnaire, Memory Symptom Assessment Scale, and Functional Assessment of Caner Therapy-Breast Cancer. Mplus 8.3 was used to carry out potential profile analysis and identify the potential categories of symptom characteristics of early breast cancer patients undergoing postoperative chemotherapy. Binary Logistic regression analysis was used to determine the influencing factors of symptom characteristics. SPSS 26.0 software was used to compare the differences in quality of life scores of patients undergoing postoperative chemotherapy for different categories of early breast cancer.Results:Totally 233 valid questionnaires were ultimately collected, with an age of 50.85 ± 8.09. There were two potential categories of postoperative chemotherapy patients with early breast cancer: low symptom troubled group (159 cases, 68.2%) and high symptom troubled group (74 cases, 31.8%). The quality of life score of the high symptom distress group was (76.84 ± 13.15) points, which was significantly lower than (89.56 ± 11.29) points of the low symptom distress group, and the difference was statistically significant ( t=7.18, P<0.01). Logistic regression analysis showed that patients with early breast cancer who had financial burden after postoperative chemotherapy were more likely to belong to the group with high symptoms [ OR (95% CI) was 3.028 (1.434-6.394), P<0.01]. Postoperative chemotherapy patients with early breast cancer who had satisfactory sleep at night are more likely to belong to the group with low symptoms [ OR(95% CI) was 0.446 (0.217-0.920), P<0.05]. Conclusions:There is population heterogeneity in the symptom characteristics of patients with early breast cancer undergoing postoperative chemotherapy. and economic burden and night sleep are the influencing factors of symptom distress categories of breast cancer patients. It is suggested that medical staff should give individualized and targeted intervention measures centered on patients′ needs according to different types of population characteristics, so as to reduce the symptom burden and improve their quality of life.

Objective:To investigate the effect of monocular form deprivation (MD) during the pre-critical period of visual development on the density and morphology of dendritic spines in mouse primary visual cortex (V1) neurons.Methods:Twenty SPF male C57BL/6J mice with eyes opened on postnatal day 14 (P14) were selected and divided into MD and control groups using a random number table, with 10 mice in each group.The MD group was fed to P18 after 4 days of MD in the right eye, and the control group was raised to P18 under the same feeding conditions.All mice were decapitated after cardiac perfusion, and the sections were stained with the cell membrane fluorescent probe 1, 1′-dioctadecyl-3, 3′, 3′-tetramethylindocarbocyanine perchlorate, and imaged by laser scanning confocal microscopy to observe and compare the differences in density and morphology of dendritic spines in bilateral V1 neurons between the control group and the MD group.This study was approved by the Animal Ethics Committee of Tianjin Medical University (No.TMUaMEC2022004).Results:The total density of dendritic spines in the V1 area on the left side of the control group, the right side of the control group, the left side of the MD group, and the right side of the MD group were (7.57±0.25), (7.42±0.25), (6.54±0.18), and (7.51±0.29)spines/10 μm, respectively, with a statistically significant overall difference ( F=3.818, P<0.05).The total density of dendritic spines in the left V1 area of mice in the MD group was significantly lower than that in the left side of the control group and the right side of the MD group, and the differences were statistically significant (both P<0.05).There was a significant difference in the proportion of the four types of dendritic spines in V1 neurons on both sides between the two groups ( χ2=26.295, P=0.002).There was a significant difference in the proportion of the four types of dendritic spines between the left V1 of the MD group and the left and right V1 of the control group (both P<0.008 3).There was a significant difference in the filopodia-type dendritic spine density in bilateral V1 neurons between the two groups ( F=3.253, P<0.05).Compared with the left V1 area of the control group, the density of filopodia-type dendritic spines in the left V1 area of the MD group decreased significantly, with a statistical significance ( P<0.05).There was no significant difference in the density of thin-type, mushroom-type, and stubby-type dendritic spines in bilateral V1 area neurons between the two groups ( F=1.760, 2.618, 1.749; all P>0.05). Conclusions:MD during the pre-critical period of visual development can cause a decrease in the total density of dendritic spines and significant changes in the compositional proportions in the V1 contralateral to the deprived eye, and is mainly manifested by a decrease in the number of filopodia, suggesting that abnormal visual experience can cause plastic changes in the number and structure of synapses in the visual cortex during the pre-critical period of visual development.

Objective:To construct the supportive care intervention scheme for breast cancer radiotherapy patients based on the empowerment theory and discuss its application effect, so as to provide the reference for the clinical nursing intervention.Methods:According to the investigation results of the current situation of supportive care needs of patients with breast cancer radiotherapy and the results of literature review, a supportive care intervention scheme for breast cancer radiotherapy patients based on the empowerment theory was constructed by Delphi expert consultation method.Adopting experimental research, breast cancer radiotherapy patients in General Hospital of Ningxia Medical University were selected by convenient sampling method. They were divided into the control group from April to May 2023 (40 cases) for routine nursing care, and the experimental group from August to September 2023 (40 cases) for the supportive care intervention scheme for breast cancer radiotherapy patients based on the empowerment theory on the basis of routine nursing care according to the admission time. The 34-item Short-Form Supportive Cancer Needs Survey (SCNS-SF34), Strategies Used by People to Promte Health (SUPPH), Cancer Fatigue Scale(CFS) and Function Assessment of Cancer Therapy-Breast (FACT-B) were collected on the day of admission, the end of radiotherapy and 3 months after radiotherapy to evaluate the effects before and after intervention.Results:After 1, 2 rounds of expert correspondence, the positivity of experts were 95.24%(20/21) and 100.00%(20/20), the expert authority coefficient was 0.804 and 0.825, and the Kendall harmony coefficient was 0.129 and 0.138 (both P<0.05). Finally, a supportive care intervention scheme for breast cancer radiotherapy patients based on the enabling theory was formed, which included 5 primary items, 11 secondary items and 32 tertiary items.The application results showed that there were 37 cases in the control group with an age of (48.16 ± 10.21) years, and 38 cases in the experimental group with an age of (44.50 ± 9.81) years. All patients were female. There was no statistically significant difference in the scores of SCNS-SF34, SUPPH, CFS, and FACT-B between the two groups on the day of admission(all P>0.05). Three months after the end of radiotherapy, the score of SCNS-SF34 in the experimental group was (73.24 ± 11.99) points, which was lower than (79.91 ± 14.79) points in the control group, and the difference was statistically significant ( t=4.43, P<0.05). At the end of radiotherapy and 3 months after the end of radiotherapy, the scores of SUPPH in the experimental group were (80.39 ± 8.55) and (92.37 ± 8.14) points, respectively, which were higher than (73.95 ± 9.86) and (86.24 ± 7.10) points in the control group, and the difference was statistically significant ( t=-3.03, -3.47, both P<0.05). At the end of radiotherapy and 3 months after the end of radiotherapy, the scores of CFS in the experimental group were 30.00 (28.75, 33.00) and (25.29 ± 3.26) points, respectively, which were lower than 34.00 (31.50, 35.00) and (27.59 ± 3.43) points in the control group, and the difference was statistically significant ( Z=-3.51, t=2.98, both P<0.05). At the end of radiotherapy and 3 months after the end of radiotherapy, the scores of FACT-B in the experimental group were (85.08 ± 12.74) and (105.53 ± 6.53) points, respectively, which were higher than (79.03 ± 7.90) and (95.73 ± 7.61) points in the control group, and the difference was statistically significant ( t=-2.48, -5.99, both P<0.05). Conclusions:The supportive care intervention scheme for patients with breast cancer radiotherapy based on the empowerment theory established in this study is scientific and feasible, which can reduce patients' needs for supportive care, alleviate cancer-related fatigue, and improve self-management efficacy and quality of life.

Objective:To explore the clinical efficacy and safety of endoscopic rubber band ligation (ERBL) and endoscopic injection sclerotherapy (EIS) in the treatment of grade I-III internal hemorrhoids, to provide a basis for the individualized treatment of patients with internal hemorrhoids in clinical practice.Methods:A retrospective cohort study was conducted. A total of 613 patients with grade I to III internal hemorrhoids who underwent ERBL or EIS at The Sixth Affiliated Hospital of Sun Yat-sen University from December 2019 to November 2023 were retrospectively collected. Inclusion criteria: (1) Patients diagnosed with symptomatic grade I-III internal hemorrhoids who failed conservative treatments such as diet adjustment and medication; (2) Patients who were unable or unwilling to receive surgical treatment due to multiple underlying systemic diseases. Exclusion criteria: (1) Patients with grade I-III internal hemorrhoids complicated with incarceration, thrombosis or other complications; (2) Patients with a history of hemorrhoid surgery; (3) Patients complicated with perianal abscess, anal fistula, active proctitis, rectal tumor, polyp, radiation proctitis or inflammatory bowel disease; (4) Patients with incomplete clinical data or lost to follow-up. This study was divided into the ERBL group and the EIS group based on different treatment. Baseline characteristics, postoperative effective rate, recurrence rate, pain score, anal distension, anal edema, complication rate, and treatment satisfaction were compared between the two groups.Results:After balancing with propensity score matching (PSM), a total of 313 patients were included, including 200 in the ERBL group and 113 in the EIS group. There were no statistically significant differences in baseline characteristics, such as gender, age, body mass index, Goligher classification, and laboratory test indicators, between the two groups (all P > 0.05), indicating that the two groups were comparable. The cure rates of the ERBL group and the EIS group were 64.0% (128/200) and 62.8% (71/113), respectively. The marked effective rates were 31.5% (63/200) and 34.5% (39/113), and the ineffective rates were 4.5% (9/200) and 2.7% (3/113), respectively. Statistical analysis revealed no statistically significant difference in efficacy between the two groups within 3 months after the operation (χ2=0.858, P=0.651). The recurrence rate of the ERBL group was lower than that of the EIS group [13.1% (25/191) vs. 18.2% (20/110)], but the difference was not statistically significant (χ2=1.424, P=0.233). Subgroup analysis showed that the recurrence rates of ERBL and EIS were similar in grade I-II internal hemorrhoids [10.3% (15/146) vs. 10.5% (9/86), χ2=0.002, P=0.963]; in grade III internal hemorrhoids, the recurrence rate of the ERBL group was lower than that of the EIS group [22.2% (10/45) vs. 45.8% (11/24), χ2=4.121, P=0.042]. Still, the difference was not statistically significant after Bonferroni correction (χ2=4.121, corrected P>0.025). Compared with the ERBL group, the EIS group had a lower pain score on the first day after operation [0 (0, 0) vs. 1 (0, 3), Z=-8.211, P<0.001] and a lower incidence of anal distension [25.7% (29/113) vs. 61.5% (123/200), χ2=37.122, P<0.001], with statistically significant differences. The total incidence of complications in the ERBL group was significantly higher than that in the EIS group [29.5% (59/200) vs. 4.4% (5/113), χ2=27.910, P<0.001], mainly reflected in postoperative bleeding [18.0% (36/200) vs. 3.5% (4/113), χ2=13.544, P<0.001] and urinary retention [8.5% (17/200) vs. 0, χ2=10.157, P=0.001], with statistically significant differences. There were no statistically significant differences in postoperative satisfaction, health status score, and the proportion of returning to everyday life within 1 month between the two groups (all P>0.05). Conclusions:Both ERBL and EIS are effective minimally invasive therapies for grade I-III internal hemorrhoids. EIS is preferred for grade I and II internal hemorrhoids to reduce complications, while ERBL shows a trend in reducing the recurrence rate of grade III internal hemorrhoids. Clinical decisions should be made comprehensively based on the classification, patient tolerance, and prognosis.

Visual system is a critical sensory system in humans and a vital component of the central nervous system, which is responsible for over 80% of external information acquisition.Visual function is a key indicator of overall health.With socioeconomic development, the public has higher expectations for eye health, shifting the focus of eye health initiatives from disease treatment to comprehensive public eye health.Key scientific challenges include how to effectively prevent, diagnose, and treat blindness and visual impairment at an early stage; how to enhance the overall visual quality of patients to ensure not just sight but clear and comfortable vision; and how to meet the public's diverse and multi-tiered eye health needs.Visual science is an interdisciplinary field exploring the development of the visual system, the mechanisms of vision, and brain-related perceptual, cognitive and behavioral processes involving sight.Prioritizing and advancing visual science research is of great significance for promoting comprehensive eye health and implementing the Healthy China Strategy.This article first outlines the concept and research significance of visual science.It then highlights the key scientific questions in visual science pertaining to several major eye diseases, such as myopia, amblyopia, cataract, fundus diseases, glaucoma, and corneal diseases, reviews the historical foundation of visual science research in China, selectively summarizes key achievements and ongoing progress in this field, analyzes the landscape and challenges faced by domestic research, and proposes, to this end, strategies to advance visual science in China.These recommendations are designed to promote visual science research in China and ultimately advance comprehensive eye health.

Objective:To explore the genotype and the clinical phenotype of SCN2A-related developmental delay in children. Methods:A case series study was adopted. Collect clinical data from 10 cases of children with SCN2A gene variants diagnosed with global developmental delay/intellectual disability who were admitted to the Children′s Hospital between July 2019 and March 2023. Summarize the clinical phenotype and genotype based on clinical data such as general information, clinical manifestations, imaging examinations, laboratory tests, genetic testing results, and comprehensive pediatric neuropsychological development assessment. Results:A total of 10 patients were recruited, including 7 males and 3 females, with an age range of 27 days to 5 years and 9 months. 9 patients underwent children′s neuropsychological and behavioral assessments, and the results were consistent with global developmental delay, including 2 mild cases, 4 moderate cases, and 3 severe cases. 3 cases had autism spectrum disorder, and 2 cases had epilepsy. 6 patients underwent complete head MRI examination, and 4 of them showed abnormalities, including delayed myelination, widening of the local extra brain space in the frontal lobe, and abnormal frontal lobe morphology. All 10 cases had point variants. Among them, 9 cases are de novo and 1 case is maternal inheritance. Out of 10 cases, there were 5 cases with copy number variations, but all of them were of unknown significance. Among the 10 variants, 8 have been reported and 2 have not been reported, namely c.4145A>T(p.N1382I) and c.4937T>A(p.I1646N). In this study, 4 out of 10 patients with SCN2A variants had variation sites located in the S4 segment of domain which constitute Nav1.2, the sodium ion channel encoded by SCN2A. The developmental quotient level was lower when the variation sites were located in the S4 segment of domain, and the difference was statistically significant ( t=-3.101, P=0.017), indicating that the severity of developmental delay may be related to the localization of amino acids corresponding to variant sites within the protein domain. Conclusion:SCN2A mutations are strongly associated with diverse neurodevelopmental disorders. In this study, the phenotypic spectrum of SCN2A variants encompassed epilepsy, global developmental delay, and autism spectrum disorder. Affected individuals exhibited early-onset developmental delays, predominantly moderate to severe in severity. Voltage-sensing domain dysfunction in sodium channels may constitute a critical pathomechanism underlying neurodevelopmental impairments. Further electrophysiological characterization and molecular mechanistic studies are warranted todelineate the genotype-phenotype correlations between specific variant loci and clinical severity.

Objective:To investigate the relationship between alterations in dynamic functional connectivity (dFC) and spatial navigation abilities in individuals with subjective cognitive decline (SCD) across different Traditional Chinese Medicine (TCM) constitutions.Methods:Seventy-five participants with SCD, comprising 34 individuals with balanced constitutions and 41 individuals with biased constitutions, were recruited from the Affiliated Drum Tower Hospital of Nanjing University Medical School between August 2022 and January 2025. The participants underwent TCM constitution assessment, spatial navigation ability testing, and neuropsychological scale evaluation. Additionally, each participant was assessed using 3.0 T resting-state functional magnetic resonance imaging (rs-fMRI) and high-resolution T1-weighted imaging scans. Based on prior research, 20 spatial navigation-related regions of interest (ROIs) were defined. Afterwards, rs-fMRI time series were segmented using a sliding time window approach before calculating the dFC within the spatial navigation brain network.Results:Compared to the balanced constitution group, the biased constitution SCD group showed significantly lower scores on the Mini-Mental State Examination (MMSE) ( z=-3.05, P=0.002) and the Auditory Verbal Learning Test (AVLT) measures: immediate recall ( z=-2.12, P=0.035), short-delay recall ( z=-2.22, P=0.026), long-delay recall ( z=-2.88, P=0.004), cued recall ( z=-2.91, P=0.004), and recognition ( z=-2.20, P=0.028). They also exhibited significantly higher average error distances in ego-allocentric navigation ( z=-2.28, P=0.023), egocentric navigation ( z=-2.31, P=0.021), and delayed navigation ( z=-2.02, P=0.043). Participants with SCD who had a biased constitution also demonstrated significantly reduced dFC between the left parahippocampal gyrus (PHG) and left prefrontal cortex (PFC) ( t=2.43), right precuneus and right retrosplenial cortex (RSC) ( t=2.96), and left inferior parietal lobule (IPL) and left hippocampus ( t=2.42) (all P<0.05, Bonferroni-corrected). Conversely, the dFC was significantly increased between the right PHG and left PFC ( t=-2.29, P<0.05, Bonferroni-corrected). Significant correlations were also found in participants with SCD who had biased constitutions: the dFC between the left PHG and left PFC positively correlated with the egocentric navigation average total error ( r=0.34, P=0.030) and negatively correlated with the visuospatial memory cognitive domain ( r=-0.35, P=0.026); the dFC between the left IPL and left hippocampus negatively correlated with the egocentric navigation average total error ( r=-0.32, P=0.043); and the dFC between the right PHG and left PFC positively correlated with the delayed navigation average total error ( r=0.33, P=0.037). The area under the ROC curve for the combined differences in cognitive assessments, spatial navigation behavior, and navigation-related brain network dFC was 0.966 in predicting biased constitution versus balanced constitution in participants with SCD. Conclusions:Individuals with SCD and biased constitutions demonstrated poorer spatial navigation ability, possibly due to altered dFC within the spatial navigation brain network. Furthermore, the integrated model based on spatial navigation behaviors and dFC exhibited a high predictive value in distinguishing between individuals with SCD who had balanced and biased constitutions.

The number of patients with eye diseases in China is enormous,and the negative effects of these conditions,such as impaired visual function,psychological burdens,and restricted social participation,are becoming increasingly severe.Due to the limited and unevenly distributed ophthalmic resources,and the significant limitations of traditional diagnostic and therapeutic approaches in terms of accuracy and efficiency,there is an urgent need for more sensitive and efficient modalities.With the rapid advancement of artificial intelligence technology,ophthalmic diagnosis has entered a new stage of intelligent transformation.Facial photos,as a noninvasive and convenient medium,show unique advantages in eye disease diagnosis.Artificial intelligence systems based on facial photo analysis have been applied to the screening and diagnosis of conditions such as myopia,strabismus,ptosis,and thyroid eye disease,showing promising results.This review introduces the workflow of intelligent diagnosis for ocular diseases based on facial photographs,with a focus on recapitulating relevant research findings both domestically and internationally in recent years.It summarizes the innovative features and application advantages of intelligent diagnosis systems for eye diseases based on facial photos,analyzes the current technical bottlenecks and challenges in application,proposes corresponding countermeasures,and discusses future development directions,aiming to provide references and new insights for the intelligent screening and diagnosis of eye diseases.