AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

BACKGROUND:We have successfully established an animal model of small ear pig in southern Yunnan province with internal tension relieving technique combined with autologous Achilles tendon for anterior cruciate ligament reconstruction,and verified the stability and reliability of the model.However,whether internal tension relieving technique can promote the ligamentalization process of autologous Achilles tendon graft has not been studied. OBJECTIVE:To investigate the differences in the process of ligamentalization between conventional reconstruction and internal reduction reconstruction of the anterior cruciate ligament by gross view,histology and electron microscopy. METHODS:Thirty adult female small ear pigs in southern Yunnan province were selected.Anterior cruciate ligament reconstruction was performed on the left knee joint with the ipsilateral knee Achilles tendon(n=30 in the normal group),and anterior cruciate ligament reconstruction was performed on the right knee joint with the ipsilateral knee Achilles tendon combined with the internal relaxation and enhancement system(n=30 in the relaxation group).The autogenous right forelimb was used as the control group;the anterior cruciate ligament was exposed but not severed or surgically treated.At 12,24,and 48 weeks after surgery,10 animals were sacrificed,respectively.The left and right knee joint specimens were taken for gross morphological observation to evaluate the graft morphology.MAS score was used to evaluate the excellent and good rate of the ligament at each time point.Hematoxylin-eosin staining was used to evaluate the degree of ligament graft vascularization.Collagen fibers and nuclear morphology were observed,and nuclear morphology was scored.Ultrastructural remodeling was evaluated by scanning electron microscopy and transmission electron microscopy. RESULTS AND CONCLUSION:(1)The ligament healing shape of the relaxation group was better at various time points after surgery,and the excellent and good rate of MAS score was higher(P<0.05).Moreover,the relaxation group could obtain higher ligament vascularization score(P<0.05).(2)The arrangement of collagen bundles and fiber bundles in the two groups gradually tended to be orderly,and the transverse fiber connections between collagen gradually increased and thickened,suggesting that the strength and shape degree of the grafts were gradually improved,but the ligament remodeling in the relaxation group was always faster than that in the normal group at various time points after surgery.(3)The diameter,distribution density,and arrangement degree of collagen fibers in the relaxation group were better than those in the normal group at all time points,especially in the comparison of collagen fiber diameter between and within the relaxation group(P<0.05).

Objective To investigate the impact of Naples prognostic score(NPS)and prognostic nutritional index(PNI)on postoperative recurrence and survival in patients with endometrial cancer(EC).Methods A total of 258 EC patients were selected for surgical treatment.Clinical data such as the patients' age at admission,pathological grade,depth of myometrial invasion,lymphovascular space invasion(LVSI),lymph node metastasis and clinical stage of the International Society of Gynecological Oncology(FIGO)were collected.One week before the operation,the laboratory indicators were detected in patients,and NPS and PNI were calculated.The patients were followed up and divided into the recurrence group(n=72)and the non-recurrence group(n=186)according to whether there was recurrence after the operation.The recurrence curves were plotted using Kaplan-Meier method,and the Log-rank test was used to compare the differences in recurrence curves between patients with different NPS and PNI.The Cox proportional hazards regression model was used to analyze the influencing factors of postoperative recurrence in patients with EC.The receiver operating characteristic(ROC)curve was used to evaluate the predictive efficacy of PNI and NPS scores for postoperative recurrence in patients with EC.Results The proportion of patients with high-risk NPS scores was significantly higher in the recurrence group than that in the non-recurrence group(41.7%vs.19.4%,P＜0.05).The PNI was significantly lower in the recurrence group than that in the non-recurrence group(42.1±7.6 vs.47.2±8.9,P＜0.01).Multivariate Cox regression analysis showed that advanced age,elevated serum carbohydrate antigen 125(CA125),pathological grades G2 and G3,myometrial invasion depth>1/2,positive LVSI,FIGO stage Ⅲ-Ⅳ and medium-high risk patients with NPS score were independent risk factors for recurrence.Postoperative radiotherapy and chemotherapy and elevated PNI were independent protective factors for recurrence in patients.ROC curve analysis showed that the combined predictive value of NPS score and PNI for postoperative recurrence in patients with EC was superior to that of individual predictions.Conclusion Both NPS and PNI can be used as potential indicators to predict the prognosis of patients with endometrial cancer.

Objective To observe the effects of Tongqiao Pingchuan Decoction on miR-155 and NF-κB-HIF-1α signaling pathway in mice with combined allergic rhinitis and asthma syndrome(CARAS);To explore its potential mechanisms in the treatment of chronic inflammation of respiratory tract in CARAS.Methods Totally 60 female BALB/c mice were divided into blank group,model group,miR-155 inhibitor NC group,miR-155 inhibitor group,dexamethasone group and Tongqiao Pingchuan Decoction group using a random number table method,with 10 mice in each group.Except for the blank group,all other groups were sensitized by intraperitoneal injection of ovalbumin combined with aluminum hydroxide gel on days 0 and 7.From days 14 to 30,5%ovalbumin was administered intranasally every other day,followed by continuous nebulization with 5%ovalbumin from days 31 to 37.The miR-155 inhibitor NC group and the miR-155 inhibitor group received intranasal administration of miR-155 inhibitor NC and miR-155 inhibitor solution,respectively,3 hours before nebulization.The blank group was given an equivalent volume of normal saline via intraperitoneal injection,intranasal administration and nebulization.The administration groups were gavaged with the corresponding drug solution 1 hour after nebulization,while the other groups received an equivalent volume of normal saline via gavage.HE staining was used to observe morphology of nasal mucosa and lung tissue,ELISA was used to detect the contents of interleukin(IL)-4,IL-5,and γ-interferon(IFN-γ)in bronchoalveolar lavage fluid,RT-qPCR was used to detect the expression of miR-155,T-bet,GATA-3,NF-κB p65 and HIF-1α mRNA in nasal mucosa and lung tissue,Western blot was used to detect the expressions of T-bet,GATA-3,NF-κB p65 and HIF-1α proteins in lung tissue.Results Compared with the blank group,the model group mice showed shedding of nasal mucosal cilia,tissue congestion and edema,significant glandular hyperplasia and inflammatory cell infiltration,bronchial lumen stenosis,smooth muscle thickening and a large amount of inflammatory substance exudation,the contents of IL-4 and IL-5 increased,while IFN-γ content decreased(P<0.01),the mRNA expression of miR-155,GATA-3,NF-κB p65,HIF-1α in nasal mucosa and lung tissue were increased(P<0.01),while T-bet mRNA expression was decreased(P<0.01),the protein expression of GATA-3,NF-κB p65 and HIF-1α in lung tissue increased(P<0.01),while T-bet protein expression decreased(P<0.01).Compared with the model group,the miR-155 inhibitor group,dexamethasone group and Tongqiao Pingchuan Decoction group showed reduced inflammatory cell infiltration and pathological changes in nasal mucosa and lung tissue of mice,the contents of IL-4 and IL-5 in bronchoalveolar lavage fluid were reduced,while the content of IFN-γ was increased(P<0.01),the expressions of miR-155,GATA-3,NF-κB p65 and HIF-1α mRNA in nasal mucosa and lung tissue were reduced(P<0.05,P<0.01),while the expression of T-bet mRNA increased(P<0.05,P<0.01),the expressions of GATA-3,NF-κB p65 and HIF-1α protein in lung tissue were reduced(P<0.05,P<0.01),the expression of T-bet protein in dexamethasone group and Tongqiao Pingchuan Decoction group mice increased(P<0.05).Conclusion Tongqiao Pingchuan Decoction can effectively inhibit the expression of miR-155,suppress the abnormal activation of NF-κB-HIF-1α signaling pathway,correct the imbalance of Th1/Th2 immunity,and play a therapeutic role in alleviating airway inflammation in CARAS.

Temporomandibular disorders (TMD) is a common oral disease characterized by complex etiology, diverse symptomatology and varied treatment approaches. When managing TMD patients, dentists should adopt a generalist mindset, grasp the core connotation of "patient-centeredness", guided by the biopsychosocial model, and make a comprehensive judgment from a multi-dimensional, multi-systemic, and multi-factorial perspective to reach a reasonable etiological analysis and an accurate diagnosis, in order to realize the personalized and holistic treatment of TMD under the guidance of general practice thinking and multi-disciplinary collaboration.

Objective:To analyze the accuracy of nine estimation methods for umbilical venous catheterization (UVC) insertion depth in neonates.Methods:This prospective study enrolled neonates who underwent successful UVC placement in the Department of Neonatology at Gansu Provincial Women and Child Healthcare Hospital between September 2023 and October 2024. The standard catheter tip position was defined as the junction of the inferior vena cava and right atrium, with a deviation of ≤0.5 cm considered accurate. Patients were stratified by birth weight (BW) into three groups: <1 500 g, 1 500- 2 499 g, and ≥2 500 g. The actual UVC depth was compared with depths estimated using nine methods: Shukla formula, modified Shukla formula, JSS formula, BW formula, Tambasco formula, modified Tambasco formula, Dunn's nomogram, body surface measurement, and ultrasonographic measurement. Accuracy was evaluated using nonparametric tests and Bland-Altman agreement analysis.Results:The study included 111 neonates: 41 (36.9%) in the <1 500 g group, 55 (49.6%) in the 1 500-2 499 g group, and 15 (13.5%) in the ≥2 500 g group. In the <1 500 g group, accuracy rates ranged from 24% to 56%, with body surface measurement showing the highest accuracy (56%); the mean difference from actual depth was－0.073 cm, with 95% limits of agreement (LOA) of－1.764 to 1.618 cm. In the 1 500-2 499 g group, accuracy rate ranged from 15% to 51%, with the modified Tambasco formula being most accurate (51%); the mean difference was 0.113 cm (95%LOA:－1.558-1.783 cm). In the ≥2 500 g group, accuracy rate ranged from 0/15 to 10/15, with Dunn's nomogram being most accurate (10/15); the mean difference was－0.120 cm (95%LOA:－1.380-1.140 cm).Conclusions:The accuracy of the nine UVC depth estimation methods varied across different BW groups and among methods within the same group. Selection of an estimation method should be tailored to the neonate's birth weight.

Objective To investigate the serum amino acid levels in patients with acute schizophrenia(SCZ)and their predictive effect on the improvement of cognitive function after treatment,so as to provide new insights into the clinical intervention of cognitive impairment in SCZ patients.Methods A total of 66 patients with acute SCZ were enrolled(case group-baseline period).Among them,36 cases completed the follow-up after 3 months of standardized treatment(case group-follow-up period);52 healthy controls(HCs)were included.The MATRICS Consensus Cognitive Battery(MCCB)was used to assess the cognitive function of all the participants.Liquid chromatography-tandem mass spectrometry(LC-MS)was employed to detect the concentrations of 18 amino acids in fasting serum of the case group-baseline period and the control group.Independent samples t-test was used to compare serum amino acid levels and cognitive function between the case group-baseline period and the control group.Paired t-test was used to compare the differences in cognitive function between the baseline period and the follow-up period of the case group.Spearman correlation analysis and multivariate linear regression model were used to investigate the correlation between serum amino acid levels at baseline in the case group and the improvement of cognitive function after 3 months of treatment.Results Compared with the control group,the cognitive function of SCZ patients in multiple dimensions at baseline was significantly reduced(P＜0.05).After treatment,the scores of Trail Making Test(TMT),Brief Assessment of Cognition in Schizophrenia:Symbol Coding(BACS),Wechsler Memory Scale-Ⅲ(WMS),and Brief Visuospatial Memory Test-Revised(BVMT)in patients were significantly improved(all P＜0.05).In addition,the levels of proline,methionine,histidine,phenylalanine,arginine,tyrosine,aspartic acid,tryptophan,lysine,and glutamic acid were significantly lower in the case group at baseline than in the control group(all P＜0.05).Among them,the baseline tyrosine level had a significant predictive value for the improvement of TMT(R2=0.136,P=0.029),Neuropsychological Assessment Battery(NAB)(R2=0.339,P＜0.001),and Mayer-Salovey-Caruso Emotional Intelligence Test(MSCEIT)test(R2=0.165,P=0.015).The baseline arginine level had a significant predictive value for the improvement rate of Fluency test(R2=0.113,P=0.048).Conclusion There is a decrease in various amino acid levels in patients with SCZ,and some amino acids can effectively predict the improvement of cognitive function after treatment.

Objective To analyze the status quo of cognitive frailty (CF) in community elderly patients with chronic obstructive pulmonary disease (COPD) and its correlation with sleep quality, anxiety and depression. Methods Elderly patients with COPD receiving health management in the center were selected from July 2023 to June 2024. The general data of patients were collected and Mini-Mental State Examination (MMSE), Fried Frailty Phenotype (FP), Pittsburgh Sleep Quality Index (PSQI) and Hospital Anxiety and Depression Scale (HADS) were used for investigation, and the above scores were analyzed. All patients were divided into CF group (n=129) and non-CF group (n=319) according to MMSE score and FP score. Univariate and multivariate logistic analyses were used to analyze the influencing factors of CF in elderly COPD patients. Results Pearson correlation analysis showed that MMSE score was significantly negatively correlated with PSQI score and HADS score in elderly COPD patients (P<0.05), and FP score was significantly positively correlated with PSQI score and HADS score (P<0.05). After logistic regression analysis, it was found that education level, marital status and sleep time were protective factors of CF in elderly COPD patients (P<0.05), and PSQI score and HADS score were risk factors of CF in elderly patients with COPD (P<0.05). Conclusion CF in community elderly COPD patients is related to sleep quality, sleep duration and anxiety and depression. It is necessary to take clinical measures to improve the sleep quality and psychological status, so as to avoid or slow down the occurrence of CF.

Objective To explore the efficacy of the self-formulated Zhuzhang Formula in trea-ting the spleen deficiency with dysfunction of transportation syndrome of idiopathic short stature(ISS)and its effects on the growth rate,disease-related indicators,and bone metabolism indicators in affect-ed children.Methods A total of 80 children with ISS were enrolled as study subjects.They were randomly assigned to control group and observation group using random number table method,with 40 cases in each group.The control group received conventional western medicine treatment,while the observation group was administered self-formulated Zhuzhang Formula in addition to the treatment of the control group.Comparisons were made between the two groups in terms of clinical efficacy,TCM syndrome scores,growth parameters(monthly average height increment,annual growth rate),levels of disease-related indicators[serum insulin-like growth factor-1(IGF-1),bone morphogenetic pro-tein-2(BMP-2),insulin-like growth factor binding protein-3(IGFBP-3)],levels of bone metabo-lism indicators[bone alkaline phosphatase(BAP),type Ⅰ procollagen N-terminal propeptide(PⅠNP),type Ⅰ collagen cross-linked C-terminal telopeptide(β-CTX)],and the incidence of adverse reac-tions.Results The overall effective rate in the observation group was 97.50％,which was significantly higher than the 80.00％ in the control group(P＜0.05).After 3 and 6 months of intervention,the scores for symptoms such as short stature,sallow complexion,loss of appetite,weak voice and shortness of breath,limb weakness,and loose stools,as well as the total TCM syndrome scores,were lower in the observation group than those in the control group,with statistically significant differences(P＜0.05).After 6 months of intervention,the monthly average height increment and annual growth rate were higher in the observation group than those in the control group,and the differences were statistically significant(P＜0.05).After 3 and 6 months of intervention,the levels of IGF-1,BMP-2,IGFBP-3,BAP,and PⅠNP were higher in the observation group than those in the control group,while the level of β-CTX was lower,and the differences were statistically significant(P＜0.05).There was no statistically significant difference in the incidence of adverse reactions between the two groups(P＞0.05).Conclusion The self-formulated Zhuchang Formula demon-strates remarkable efficacy in treating the spleen deficiency with dysfunction of transportation syndrome of ISS.It can alleviate clinical symptoms by regulating the levels of IGF-1,BMP-2,IGFBP-3,and bone metabolism indicators,thereby promoting the growth and development of affected children,and exhibits high safety.