1.Effect of neuromuscular electrical stimulation on patients after total knee arthroplasty: a meta-analysis
Wen LI ; Xinyue YAN ; Qiuchen HUANG ; Rui ZHANG ; Yuemei SUN ; Yue ZHOU
Chinese Journal of Rehabilitation Theory and Practice 2026;32(6):653-664
ObjectiveTo evaluate the effect of neuromuscular electrical stimulation (NMES) on pain, quadriceps strength and motor function of patients after total knee arthroplasty (TKA). MethodsThe databases of CNKI, Wanfang data, VIP, PubMed, Embase, Cochrane, Web of Science and Scopus were retrieved from inception to April, 2025. Randomized controlled trials (RCT) related to the intervention of NMES after TKA were collected. The quality of the included literature was evaluated using the Cochrane Risk of Bias Assessment Tool and the Physical Therapy Evidence Database (PEDro) scale. Meta-analysis was performed with RevMan 5.4. ResultsA total of twelve RCT were included, involving 772 subjects. The PEDro scale score ranged from four to seven. NMES improved postoperative quadriceps muscle strength (SMD = 0.61, 95%CI 0.34 to 0.88, P < 0.001) and knee flexion range of motion (SMD = 1.35, 95%CI 0.30 to 2.41, P = 0.010), and reduced the Timed Up and Go Test (TUGT) time (SMD = -0.86, 95%CI -1.45 to -0.26, P = 0.005). Compared with the control group, the intervention group achieved better outcomes in the 2-Minute Walk Test (2MWT) (SMD = 19.44, 95%CI 10.44 to 30.43, P < 0.001), 3-Minute Walk Test (SMD = 23.57, 95%CI 14.77 to 32.36, P < 0.001), 6-Minute Walk Test (SMD = 42.29, 95%CI 9.71 to 74.86, P = 0.010), Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) (SMD = -0.52, 95%CI -1.00 to -0.04, P = 0.040), as well as the Physical Component Summary (PCS) (SMD = 2.90, 95%CI 0.73 to 5.06, P = 0.009) and Mental Component Summary (MCS) (SMD = 2.84, 95%CI 1.40 to 4.28, P = 0.040) of the 36-Item Short Form Health Survey (SF-36). Subgroup analysis demonstrated that two to four weeks after surgery, NMES enhanced patients' quadriceps muscle strength (SMD = 0.90, 95%CI 0.58 to 1.21, P < 0.001), shortened TUGT time (SMD = -1.28, 95%CI -2.57 to -0.02, P < 0.05) and increased walking distance in 2MWT (SMD = 20.43, 95%CI 10.44 to 30.43, P < 0.001). For patients followed up for two to three months, NMES yielded improvements in WOMAC scores (SMD = -0.44, 95%CI -0.79 to -0.09, P = 0.010) and SF-36 MCS scores (SMD = 4.17, 95%CI 2.43 to 5.91, P < 0.001). ConclusionNMES can significantly improve the quadriceps strength and walking ability of the TKA patients two to four weeks after surgery, and enhance the quality of life of patients two to three months after surgery.
2.Epidemiological characteristics of category C intestinal infectious diseases among children and adolescents in Shenzhen from 2012 to 2024 and the association with meteorological factors
Chinese Journal of School Health 2026;47(4):553-557
Objective:
To analyze the epidemiological characteristics of category C intestinal infectious diseases among children and adolescents in Shenzhen from 2012 to 2024 and the association with meteorological factors, so as to provide a scientific basis for the targeted prevention and control of infectious diseases for children and adolescents.
Methods:
Using data from the "Infectious Disease Reporting Information Management System" of the "China Disease Prevention and Control Information System" covering the period from January 1, 2012 to December 31, 2024, the study analyzed clinical and confirmed cases of hand, foot, and mouth disease, other infectious diarrhea, and acute hemorrhagic conjunctivitis among individuals aged 6-19 years old to describe demographic and temporal characteristics. It used Joinpoint regression to calculate the average annual percent change (AAPC) and annual percent change (APC) to analyze incidence trends, and Spearman s correlation was combined to generalize linear models so as to assess the association between category C intestinal infectious diseases and meteorological factors.
Results:
From 2012 to 2024, a cumulative total of 61 019 cases of hand, foot, and mouth disease among children and adolescents, 58 498 cases of other infectious diarrhea, and 6 377 cases of acute hemorrhagic conjunctivitis were reported. The AAPC in the incidence rates of these three diseases was 19.19%, 31.03% and 31.48 %, respectively(all P <0.05). Notably, the incidence of hand, foot, and mouth disease increased significantly after 2022 (APC= 133.66 %, P <0.01). The temporal distribution showed that hand,foot,and mouth disease was most prevalent in May,June and July (seasonal index of 2.39,3.64,1.97), other infectious diarrhea was most prevalent in February,March and December (seasonal index of 1.22,1.25,1.47), and acute hemorrhagic conjunctivitis peaked in September and October (seasonal index of 4.22,2.16). Monthly average temperature could increase the risk of hand,foot,and mouth disease( β = 0.18 ,95% CI =0.11-0.25); as monthly average wind speed increased, the incidence of other infectious diarrhea ( β =-0.86, 95% CI = -1.50 to -0.22) and acute hemorrhagic conjunctivitis ( β =-1.32, 95% CI =-2.60 to -0.05) both decreased (all P < 0.05 ).
Conclusions
Among children and adolescents in Shenzhen, category C intestinal infectious diseases remain prevalent throughout the year;the number of reported hand, foot, and mouth disease cases has shown an upward trend in recent years.Temperature and wind speed significantly affect the number of reported cases of three types with category C intestinal infectious diseases.
3.Clinical Observation of Modified Zhigancao Tang in Treating Patients with Liver and Kidney Deficiency of Parkinson's Disease and Its Effect on Neuronal Signal-related Proteins
Yifo WEI ; Furong LYU ; Jia YAO ; Guonian LI ; Xianyi LUO ; Meng LUO ; Zhengzheng WEN ; Qiuqi LI ; Yihan LIU ; Linlin YANG ; Rui ZUO ; Wenxin DANG ; Fang MI ; Xiaoyan WANG ; Zhigang CHEN ; Fan LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(4):166-173
ObjectiveMicrotube associated protein-2 (MAP-2), alpha-tubulin (α-tubulin), and synaptophysin (SYP) are important proteins in neuronal signal communication. This paper observed the effects of modified Zhigancao Tang on the expression of serum α-Synuclein (α-Syn) and its oligomers, MAP-2, α-tubulin, and SYP of patients with liver and kidney deficiency of Parkinson's disease (PD), analyzed their correlation, and evaluated the therapeutic effect of modified Zhigancao Tang in patients with liver and kidney deficiency of PD based on α-Syn transmission pathway mediated by neuronal communication in vivo. MethodsA total of 60 patients with PD who met the inclusion criteria were randomly divided into a treatment group (30 cases) and a control group (30 cases). Both groups were treated on the basis of PD medicine, and the treatment group was treated with modified Zhigancao Tang. Both groups were treated for 12 weeks. The changes in UPDRS score, TCM syndrome score, and expression of serum α-Syn and its oligomers, MAP-2, α-tubulin, and SYP were observed before and after 12 weeks of treatment in each group. The correlation between the above-mentioned serum biological indexes and the levels of serum α-Syn and its oligomers was analyzed. ResultsAfter treatment, the TCM syndrome score, UPDRS score, UPDRS-Ⅱ score, and UPDRS-Ⅲ score of the treatment group were significantly decreased (P<0.05, P<0.01). The UPDRS score, UPDRS-Ⅱ score, and UPDRS-Ⅲ scores in the treatment group were significantly decreased compared with those in the control group after treatment (P<0.05). After treatment, the total effective rate of the control group was 63.3% (19/30), and that of the treatment group was 86.7% (26/30). The clinical effect of the observation group was better than the control group (Z=-2.03, P<0.05). The total effective rate of the observation group was better than that of the control group, and the difference was statistically significant (χ2=5.136, P<0.05). After treatment, the oligomer level of serum α-Syn and MAP-2 level in the treatment group were significantly decreased (P<0.05, P<0.01). The levels of serum α-Syn and its oligomers, as well as α-tubulin in the treatment group, were significantly decreased compared with those in the control group after treatment (P<0.05, P<0.01). Serum α-Syn was correlated with serum MAP-2 and α-Syn oligomer in patients with PD (P<0.05, P<0.01) but not correlated with serum SYP . Serum α-Syn oligomers of patients with PD were correlated with serum MAP-2 and α-tubulin (P<0.05, P<0.01) but not correlated with serum SYP level. Serum SYP of patients with PD was correlated with serum MAP-2 (P<0.05). ConclusionModified Zhigancao Tang has a therapeutic effect on patients with liver and kidney deficiency of PD by inhibiting the production of α-Syn oligomers and intervening α-Syn microtubule transport pathway in vivo.
4.Integrated plasma and synovial membrane lipidomic profiling revealing the therapeutic effects of moxibustion in collagen-induced arthritis rat models
Jiamin WEN ; Rui ZHANG ; Danwen WANG ; Zhiling SUN
Digital Chinese Medicine 2025;8(2):254-266
Objective:
To reveal the therapeutic effects of moxibustion in collagen-induced arthritis (CIA) rat models using the combined analysis of plasma and synovial membrane lipidomic profiling and to enhance the understanding of how moxibustion affects lipid metabolism in rheumatoid arthritis (RA).
Methods:
A total of 32 male Sprague-Dawley (SD) rats were randomly assigned to four groups: control, moxibustion control (MC), model, and moxibustion model (MM) groups, with 8 rats in each group. CIA was induced in SD rats by two immunizations. The paw volume was measured before the induction of CIA. Following induction, after assessing paw volume and arthritis index (AI) scores, the MC and MM groups received treatment at bilateral Shenshu (BL23) and Zusanli (ST36) acupoints for 10 min per acupoint. The intervention included three treatment courses, each spanning 6 d and followed by a 1-d interval. Paw volume and AI scores were assessed after each treatment course. After the completion of the three treatment courses, serum, plasma, synovial tissue, and ankle joint samples were collected. Enzyme-linked immunosorbent assay (ELISA) was employed to quantify the levels of interleukin (IL)-6 and tumor necrosis factor (TNF)-α in serum. Hematoxylin and eosin (HE) staining was performed for histopathological examination of the ankle joint tissues. Meanwhile, ultra-high-performance liquid chromatography coupled with Q-Exactive Orbitrap mass spectrometry (UHPLC-Q-Exactive Orbitrap MS) was utilized to analyze the plasma and synovial tissue samples. In addition, multivariate statistical analysis was performed to identify differential lipid metabolites, and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis was applied to explore metabolic pathways modulated by moxibustion therapy.
Results:
No significant difference in hind paw volume and AI scores was observed among the groups (P > 0.05). After CIA induction, model group showed increased hind paw volume and AI scores compared with control group (P < 0.05), which were significantly reduced after moxibustion treatment in MM group compared with model group (P < 0.05). The levels of IL-6 and TNF-α were significantly higher in model and MM groups compared with control group (P < 0.05), but were lower in MM group than those in model group (P < 0.05). Histopathological analysis showed improved cartilage and reduced inflammation in MM group. A total of 33 differential lipid metabolites in the plasma and 24 in the synovial membranes of CIA rat models were identified when compared with control group. Among these lipid metabolites, 31 in the plasma and all 24 in the synovial membranes were regulated by moxibustion treatment. Pathological analysis revealed upregulation of diacylglycerol (DG) and fatty acid (FA) levels, alongside downregulation of lysophosphatidylcholine (LPC), phosphatidylcholine (PC), and phosphatidylethanolamine (PE). Under physiological conditions, the treatment specifically reduced LPC and PC levels. Pathway enrichment analysis revealed that moxibustion predominantly affected α-linolenic acid, glycerophospholipid, and sphingolipid metabolism under pathological conditions. Under physiological conditions, the regulation was centered around α-linolenic acid and glycerophospholipid metabolism.
Conclusion
The RA rat models exhibited significant lipid metabolic disturbances. Moxibustion alleviated paw swelling, reduced AI scores, modulated inflammatory cytokine levels, and partially corrected the altered levels of multiple lipid metabolites. The potential metabolic pathways implicated in the regulation of lipid metabolism under both physiological and pathological conditions include α-linolenic acid, glycerophospholipid, and sphingolipid metabolism.
5.Presenting characteristics, histological subtypes and outcomes of adult central nervous system tumours: retrospective review of a surgical cohort.
Mervyn Jun Rui LIM ; Yilong ZHENG ; Sean Wai-Onn ENG ; Celest Wen Ting SEAH ; Shuning FU ; Lucas Zheng Long LAM ; Joel Yat Seng WONG ; Balamurugan VELLAYAPPAN ; Andrea Li-Ann WONG ; Kejia TEO ; Vincent Diong Weng NGA ; Sein LWIN ; Tseng Tsai YEO
Singapore medical journal 2025;66(10):545-550
INTRODUCTION:
The most recent local study on the incidence of histological subtypes of all brain and spinal tumours treated surgically was published in 2000. In view of the outdated data, we investigated the presenting characteristics, histological subtypes and outcomes of adult patients who underwent surgery for brain or spinal tumours at our institution.
METHODS:
A single-centre retrospective review of 501 patients who underwent surgery for brain or spinal tumours from 2016 to 2020 was conducted. The inclusion criteria were (a) patients who had a brain or spinal tumour that was histologically verified and (b) patients who were aged 18 years and above at the time of surgery.
RESULTS:
Four hundred and thirty-five patients (86.8%) had brain tumours and 66 patients (13.2%) had spinal tumours. Patients with brain tumours frequently presented with cranial nerve palsy, headache and weakness, while patients with spinal tumours frequently presented with weakness, numbness and back pain. Overall, the most common histological types of brain and spinal tumours were metastases, meningiomas and tumours of the sellar region. The most common complications after surgery were cerebrospinal fluid leak, diabetes insipidus and urinary tract infection. In addition, 15.2% of the brain tumours and 13.6% of the spinal tumours recurred, while 25.7% of patients with brain tumours and 18.2% of patients with spinal tumours died. High-grade gliomas and metastases had the poorest survival and highest recurrence rates.
CONCLUSION
This study serves as a comprehensive update of the epidemiology of brain and spinal tumours and could help guide further studies on brain and spinal tumours.
Humans
;
Retrospective Studies
;
Female
;
Male
;
Middle Aged
;
Adult
;
Aged
;
Central Nervous System Neoplasms/pathology*
;
Brain Neoplasms/pathology*
;
Treatment Outcome
;
Postoperative Complications
;
Young Adult
;
Spinal Neoplasms/pathology*
;
Neoplasm Recurrence, Local
;
Aged, 80 and over
;
Adolescent
6.Clinical efficacy of endocrinotherapy combined with Shenqi Pills on patients with hormone-sensitive prostate cancer
Yu-hong XIE ; Gang YI ; Xiao-wen YI ; Tong-lin SUN ; Qun-fang LIN ; Jun ZHOU ; Xin-jun LUO ; Biao WANG ; Fang-zhi FU ; Qin-zheng WANG ; Lie ZHANG ; Yang YANG ; Rui-song GAO ; Qing ZHOU
National Journal of Andrology 2025;31(4):341-348
Objective:The aim of this study is to explore the clinical efficacy and safety of endocrinotherapy combined with Shenqi Pills on hormone-sensitive prostate cancer(HSPC).Methods:Eighty patients who were diagnosed with HSPC and renal-yang deficiency at the First Affiliated Hospital of Hunan University of Traditional Chinese Medicine and the Hospital of Traditional Chi-nese Medicine of Mayang Miao Autonomous County from 1st April 2021 to 30th April 2024 were randomly divided into 2 groups.The patients in the control group were treated with androgen deprivation therapy(ADT).And the patients in treatment group were treated with Shenqi Pills orally on the basis of the control group.The baseline data of the two groups were analyzed.After 36 months of treat-ment,the differences between the two groups were compared in terms of overall survival(OS),prostate-specific antigen(PSA)level,PSA response rate,Functional Assessment Scale for Prostate Cancer Therapy(FACT-P),Chinese medicine evidence scores,testoster-one level and safety.Results:A total of 80 study subjects were included in this study,including 42 cases in the treatment group and 38 cases in the control group.There was no statistical difference in the baseline data between the two groups before treatment(P>0.05).At the end of the observation period,a statistically significant difference in OS was found in the treatment group compared to the control group in the subgroup of patients with a disease duration ranged of 0-6 months(P<0.05).There was no statistically signif-icant difference in PSA levels in the treatment group at 3 months(P>0.05).And the differences in the proportion of PSA50(98.1%vs 91.4%),PSA90(92.9% vs 84.6%)and the proportion of decrease in PSA(56.7%vs 33.8%)in the treatment group were found compared to those in the control group after 6 months of tre atment.After 12 months of treatment,the scores of FACT-4 and re-nal-yang deficiency in the treatment group were(95.28±7.93)and(15.73±5.70)respectively,compared to the scores in the con-trol group([85.46±10.12]and[18.20±4.27](P<0.05).However,there was no significant difference in serum testosterone([0.60±0.24]nmol/L vs[1.09±2.10]nmol/L)between the two groups(P>0.05).After 24 months of treatment,there were significant differences in in the FACT-4 total score([97.95±7.54]vs[80.33±8.58]),renal-yang deficiency syndrome score([14.64±5.15]vs[24.94±8.75])between the treatment group and the control group(P<0.05).However,there was no signifi-cant difference in serum testosterone([0.73±1.01]nmol/L vs[0.59±0.25]nmol/L)between the two groups(P>0.05).Bet-ter therapeutic results were showed in the treatment group in terms of total FACT-P score,physical situation score,social and family situation score,emotional state score,functional state score,additional score and renal-yang deficiency symptom score(P<0.05).After treatment,there was no serious adverse reaction in the course of treatment,and no obvious abnormality was found in the liver and kidney function of the patients from two groups.Conclusion:Endocrinotherapy combined with Shenqi Pills is safe and effective in HSPC and can reduce the risk of death in HSPC patients,and the earlier the intervention,the longer the overall survival of the pa-tients.In addition,this treatment regimen can increase the PSA response rate,improve patients'quality of life,and reduce the renal-yang deficiency syndrome score without the risk of elevating serum testosterone levels.
7.The short-term effects of Conbercept intravitreal injection on matrix metalloproteinase-2 and tissue inhibitor of metalloproteinases-2 expression in the aqueous humor of eyes with proliferative diabetic retinopathy
Wei ZHANG ; Kai ZHU ; Wen JIA ; Rui ZHANG ; Xuran LI ; Yonghao GU
Chinese Journal of Ocular Fundus Diseases 2025;41(1):7-14
Objective:To observe and analyze the short-term effects of intravitreal injection of Conbercept (IVC) on the expression levels of matrix metalloproteinase (MMP)-2 and MMP inhibitor-2 (TIMP-2) in the aqueous humor of eyes with proliferative diabetic retinopathy (PDR).Methods:A prospective clinical study. From March 2024 to June 2024, 30 consecutive patients with 30 eyes with PDR (PDR group) undergoing IVC combined with pars plana vitrectomy (PPV) at Department of Ophthalmology of The First Affiliated Hospital of University of Science and Technology were included in the study, along with 20 patients with 20 eyes undergoing cataract surgery (control group) during the same period. In the PDR group, IVC treatment was performed 3 to 7 days before PPV, and 0.05-0.10 ml aqueous humor was collected before IVC and before PPV. In the control group, 0.05-0.10 ml aqueous humor was collected before cataract surgery. The levels of vascular endothelial growth factor (VEGF), MMP-2, and TIMP-2 in the aqueous humor were measured using enzyme-linked immunosorbent assay. For normally distributed data, independent samples t-test were used for comparison between two groups; for non-normally distributed data, the Mann-Whitney U test was used. The correlation analysis of VEGF, MMP-2, TIMP-2 concentrations in aqueous humor of PDR patients was performed using Pearson's correlation coefficient. Results:There were no statistically significant differences in age ( Z=-1.810) and gender composition ( χ2=3.450) between the PDR group and the control group ( P>0.05). Before IVC, VEGF and MMP-2 expression levels were (0.23±0.10), (2.11±1.32) ng/ml and (0.12±0.03), (0.53±0.26) ng/ml in patients' aqueous fluid in PDR group and control group, respectively. The expression level of TIMP-2 and the ratio of MMP-2/TIMP-2 were (0.99±0.26), (1.76±0.11) ng/ml and 2.04 (1.19, 2.98), 0.36 (0.15, 0.39), respectively. Compared with the control group, the expression levels of VEGF and MMP-2 in aqueous humor in PDR group ( t=-5.030, -5.260) and the ratio of MMP-2/TIMP-2 ( Z=-5.740) were significantly increased, with statistical significance ( P<0.01). The expression level of TIMP-2 was significantly lower than that of control group, the difference was statistically significant ( t=12.120, P<0.01). After IVC, the expression levels of VEGF and MMP-2 in aqueous humor of PDR patients were (0.13±0.03) and (2.11±1.32) ng/ml, respectively. The expression level of TIMP-2 and the ratio of MMP-2/TIMP-2 were (0.95±0.28) ng/ml and 1.57 (1.02, 3.13), respectively. Compared with before IVC, the expression level of VEGF in aqueous humor in PDR group after IVC was significantly decreased, and the difference was statistically significant ( t=6.080, P<0.01). The expression levels of MMP-2 ( t=1.220), TIMP-2 ( t=0.290) and the ratio of MMP-2/TIMP-2 ( Z=-0.260) were not significantly different ( P=0.270, 0.780, 0.800). After IVC, there was no significant difference in VEGF expression level between PDR group and control group ( t=-1.200, P=0.240). The expression level of MMP-2 was still significantly increased ( t=-5.880), the expression level of TIMP-2 was still significantly decreased ( t=11.520), and the ratio of MMP-2/TIMP-2 was still significantly increased ( Z=-5.780), with statistical significance ( P<0.01). Correlation analysis showed that VEGF was positively correlated with MMP-2 in aqueous humor of PDR patients before IVC ( r=0.590, P<0.01). Conclusions:IVC can effectively reduce the level of VEGF in the aqueous humor of eyes with PDR in the short term, but it has no significant effect on the levels of MMP-2 and TIMP-2.
8.Genotype-phenotype analysis of COL2A1 and COL11A1 de novo mutations leading to Stickler syndrome types 1 and 2
Jiayu LI ; Chunhua LI ; Caihong SUN ; Wei FANG ; Xiaolong QI ; Wenjing LI ; Shaochi ZHANG ; Wen ZHANG ; Rui LI ; Wenjuan ZHUANG
Chinese Journal of Ocular Fundus Diseases 2025;41(3):186-193
Objective:To observe and analyze the clinical phenotype and genetic characteristics of COL2A1 and COL11A1 de novo mutation (DNM) related Stickler syndrome type Ⅰ and Ⅱ patients. Methods:A family-based cohort study. From December 2023 to November 2024, 4 patients (all probands) with Stickler syndrome diagnosed by clinical and genetic testing in Department of Ophthalmology of People's Hospital of Ningxia Hui Autonomous Region and their parents (8 cases) were included in the study. The patients came from 4 unrelated families. A detailed medical history was taken, and the patients underwent best-corrected visual acuity (BCVA), refraction, and fundus color photography examinations. Systemic examinations included the oral and facial regions, skeletal, joints, and hearing. Peripheral venous blood samples were collected from the patients and their parents, and genomic DNA was extracted. Whole-exome sequencing was used to screen for pathogenic genes and their loci, which were then validated by Sanger sequencing and combined with segregation analysis in the families to identify candidate gene mutation sites. The candidate variants were assessed for pathogenicity according to the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for the classification of genetic variants. Additionally, cross-species conservation analysis was performed to determine the evolutionary conservation of wild-type amino acids, and protein three-dimensional modeling techniques were used to characterize the spatial conformational changes of the variant proteins and the alterations in their local hydrogen bond networks.Results:Among the 4 patients, there were 2 males and 2 females; their ages ranged from 3 to 12 years. There were 2 cases of Stickler syndrome type Ⅰ (proband of families 1 and 2) and 2 cases of type Ⅱ (proband of families 3 and 4). The diopters ranged from -8.00 to-18.00 D. BCVA ranged from no light perception to 0.6 -. There were 2 cases each of vitreous membrane-like and "bead-like" opacity. Three cases showed peripapillary atrophy arcs and leopard pattern changes in the retina; one case had bilateral retinal detachment with a large macular hole in the left eye, which had previously been treated with vitrectomy surgery. One case had bilateral sensorineural hearing loss. There were 3 cases of simple micrognathia; one case had a flat nasal bridge, short nose, midface depression, and micrognathia. Two cases had excessive elbow joint extension. The phenotypes of the parents of the 4 patients were normal. Genetic testing results revealed that the probands of families 1 and 2 carried COL2A1 gene c.85+1G>C (M1) splice site variant and c.3950_3951insA (p.M1317Ifs*48) (M2) frameshift variant, respectively; the probands of families 3 and 4 carried COL11A1 gene (NM_001854.4) c.2549 G>T (p.G850V) (M3) missense variant and c.3816+6T>C (M4) splice site variant, respectively. The parents did not carry the related gene variants. Among them, M2, M3, and M4 are newly reported DNM. According to the ACMG guidelines, they were all considered likely pathogenic. The cross-species conservation analysis results showed that the wild-type amino acid of the COL11A1 gene M3 missense variant was highly conserved across multiple different species. Protein local structure modeling analysis revealed that the COL2A1 gene M2 frameshift variant and the COL11A1 gene M3 missense variant significantly altered the tertiary structure conformation of the protein, leading to abnormal spatial arrangement and hydrogen bond network in the key functional domains Conclusion:The COL2A1 gene M1 splice site variant, M2 frameshift variant, and the COL11A1 gene M3 missense variant, M4 splice site variant are respectively the potential pathogenic genes for families 1, 2, and families 3, 4; leading to the onset of Stickler syndrome type Ⅰ in families 1 and 2, and type Ⅱ in families 3 and 4.
9.Comparison of the modified Kadish, AJCC T and Dulguerov T staging systems for olfactory neuroblastoma: analysis of the SEER database
Huanhuan LYU ; Xin WEN ; Jingtao LIN ; Ruihua FANG ; Rui HE ; Mengyu CHEN ; Yihui WEN ; Weiping WEN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2025;60(6):646-653
Objective:To compare the Kadish T staging, AJCC T staging, and Dulguerov T staging system in terms of their impact on surgical treatment selection and survival prognosis in patients with olfactory neuroblastoma (ONB).Methods:The cases of pathologically confirmed ONB from the Surveillance, Epidemiology, and End Results (SEER) database between 2000 and 2018 were collected and screened. Tumors were staged according to Kadish staging system, AJCC T staging and Dulguerov T staging guidelines. Kaplan-Meier analysis was used to calculate 5-and 10-year overall survival rates for different stages, and the log-rank test was used to detect statistically significant differences. Multivariate analysis was performed using Logistic regression and Cox regression models to explore factors influencing surgical treatment choices and prognosis in ONB patients.Results:A total of 519 ONB patients with complete data available for analysis were included in the study. Multivariate analysis revealed that tumor staging, age, and marital status were closely associated with surgical treatment selection. The 10-year survival rates for patients in stage A, B, and C were 74.1%, 68.7%, 55.0%, respectively. The multivariate analysis failed to show a significant prognostic gradient between adjacent stages in any of the three staging systems.Conclusions:The selection of surgical treatment for ONB is influenced by clinical characteristics such as tumor stage and age. The commonly used Kadish, AJCC T, and Dulguerov T staging systems do not significantly differentiate prognosis between adjacent stages, highlighting the need for the development of a more accurate and comprehensive staging system.
10.A case of hepatoblastoma easily misdiagnosed as hemangioma
Wen QIAN ; Rui HE ; Nan ZHANG ; Li LI ; Hongjin WU ; Bin ZHANG
Chinese Journal of Plastic Surgery 2025;41(2):179-182
This paper reports a case of hepatoblastoma that is inclined to misdiagnosis and missed diagnosis. The patient, a 6-month-old male, was admitted to Dermatology Department of Children’s Hospital of Nanjing Medical University and Beijing Children’s Hospital successively, because of a erythema on the neck for 6 months and a mass in the neck for 3 months. Abdominal ultrasonography and CT indicated the possibility of hepatic hemangioma, but further examination of alpha fetoprote and other indicators suggested hepatic malignant tumor. Therefore, surgery was performed to remove the liver mass, and postoperative pathology revealed hepatoblastoma. Postoperative chemotherapy was combined, and follow-up was conducted six months after the end of chemotherapy, with no recurrence of the disease. This article summarized the diagnosis and treatment process of this case and combined with literature review to provide experience for clinicians in the diagnosis and treatment of relevant cases.


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