Objective: To investigate the symptoms of depression and anxiety and their influencing factors in adolescents undergoing facial scar plasty, so as to provide insights into psychological interventions among them. Methods: The patients with facial scars who were 14 to 25 years old and admitted to the Department of Plastic Surgery, Hospital of Dermatology Chinese Academy of Medical Sciences and Peking Union Medical College were selected. General information and scar condition were collected through questionnaire surveys. Symptoms of depression and anxiety were assessed using the Self-rating Depression Scale (SDS) and Self-rating Anxiety Scale (SAS). The patients who scored 50 points and over in both SDS and SAS were identified as having depression and anxiety symptoms. Factors affecting depression and anxiety symptoms were identified using a multivariable logistic regression model. Results: A total of 108 adolescents undergoing facial scar plasty were surveyed, with a mean age of (19.16±2.03) years. There were 50 boys (46.30%) and 58 girls (53.70%). Depression and anxiety symptoms were detected in 62 cases, accounting for 57.41%. Multivariable logistic regression analysis showed that girls (OR=1.547, 95%CI: 1.072-2.231), unhealthy diet (OR=1.428, 95%CI: 1.120-1.820), high scores of pain (OR=1.677, 95%CI: 1.120-2.511) and high scores of scar severity (OR=1.629, 95%CI: 1.112-2.387) were associated with increased risks of depression and anxiety symptoms in adolescents undergoing facial scar plasty, while high scores of social support (OR=0.569, 95%CI: 0.348-0.931) and high scores of resilience (OR=0.465, 95%CI: 0.252-0.858) were associated with decreased risks. Conclusion Depression and anxiety symptoms are relatively prevalent in adolescents undergoing facial scar plasty, and are influenced by gender, diet, pain degree, scar severity, social support and resilience.

Objective:To analyze the genotype of hereditary eye diseases with early-onset high myopia (eoHM) and its relationship with phenotype.Methods:The families with eoHM were collected in Ningxia Eye Hospital from January 2019 to June 2020.The medical records of the probands and their family members were inquired and recorded in detail, and the relevant ocular examinations were performed.Peripheral venous blood samples were collected from patients and their family members, and whole-genome DNA was extracted.Sequence capture sequencing technology was applied to screen for disease-causing gene mutations in probands.The detected suspected pathogenic variants were verified by Sanger sequencing and were analyzed by family cosegregation analysis.According to ACMG guidelines, the pathogenicity of novel variants was evaluated.The original literature about hereditary eye diseases with eoHM was searched to analyze the relationship between mutated genes and clinical phenotype.This study protocol adhered to the Declaration of Helsinki.All subjects or their guardians were informed of the purpose and procedure of the study and signed the informed consent form.The study protocol was approved by the Ethics Committee of the People's Hospital of Ningxia Hui Autonomous Region (No.2016018).Results:A total of 20 eoHM families were collected, among which pathogenic variants associated with inherited eye diseases were detected in 8 families.Of the 8 probands, two were diagnosed with familial exudative vitreoretinopathy, one with X-linked retinitis pigmentosa, one with congenital stationary nightblindness, one with Stickler syndrome, one with achromatopsia, one with Leber congenital amaurosis, and one with gyrate atrophy of the choroid and retina.The first diagnosis age of the 8 probands was 4-7 years old, and they were all diagnosed as high myopia, with a refractive status ≤-6.00 DS.Genetic tests showed that the 8 probands carried a heterozygous variant c. 313A>G (p.M105Val) in FZD4 gene, a heterozygous variant c. 14_15insAAGA (p.Asp5fs *) in TSPAN12 gene, a heterozygous frameshift variant c. 2234_2237del (p.Arg745fs) in RPGR gene, a compound heterozygous variant of c. 481C>T (p.Gln161Ter *) and c. 355>T (p.Arg119Cys *) in GPR179 gene, a frameshift variant c. 1659_1660insACGGTGACCCTGGCCGTCCTGG (p.Pro554fs *) in COL2A1 gene, a compound heterozygous variant of c. 1811C>T (p.Thr604Ile *) and c. 967G>A (p.Gly323Ser) in PDE6B gene, a compound heterozygous variant of c. 604_619delTCCACGGCACTCAGGG (p.Ser202fs *) and c. 995G>C (p.Arg332Pro) in GUCY2D gene, a homozygous variant c. 772C>T (p.Pro241Leu) in OAT gene.Seven of them were novel variants.Compared with the previous literature, the clinical and gene phenotypes of the 8 families were analyzed in detail in this study, which provided the basis for the diagnosis of hereditary eye diseases with eoHM. Conclusions:EoHM is closely related to some hereditary eye diseases, which may be the reason for the early diagnosis of children and an important clue for clinicians to detect potential hereditary eye diseases.Further clinical evaluations of ocular structure and function as well as genetic screening in children with eoHM are recommended.

Objective:To observe and analyze the gene mutation and clinical phenotype of patients with cone and rod dystrophy (CORD).Methods:A pedigree investigarion. Two CORD pedigrees including 2 patients and 6 family members were enrolled in Ningxia Eye Hospital of People' Hospital of Ningxia Hui Automous Region for this study. The patients were from 2 unrelated families, all of whom were probands. Take medical history with best-corrected visual acuity (BCVA), color vision, slit lamp microscopy, indirect ophthalmoscopy, fundus color photography, optical coherence tomography (OCT), autofluorescence (AF), fluorescein fundus angiography (FFA), electroretinogram (ERG). The peripheral venous blood of patients and their parents was collected, whole genome DNA was extracted, Trio whole genome exome sequencing was performed, Sanger verification and pedigree co-segregation were performed for suspected pathogenic mutation sites. According to the law of inheritance, family history was analyzed to establish its genetic type. Mutational loci pathogenicity was analyzed according to the American College of Medical Genetics (ACMG) guidelines and 4 online tools.Results:Two CORD families showed autosomal recessive inheritance. The proband of pedigree 1 was female, 49 years old. Binocular vision loss with photophobia lasted for 9 years and night blindness for 4 years. The BCVA of right eye and left eye were 0.03 and 0.06, respectively. The results of ERG showed that the amplitudes of dark adaptation 0.01 b-wave and dark adaptation 3.0 a-wave and b-wave in both eyes were slightly decreased, and the amplitudes of light adaptation 3.0 a-wave and b-wave were severely decreased. The proband of pedigree 2 was male, 30 years old. Vision loss in both eyes for 4 years. Denying a history of night blindness. The BCVA of right eye and left eye were 0.3 and 0.2, respectively. The results of ERG showed that the amplitudes of dark adaptation 0.01 b-wave and dark adaptation 3.0 a-wave and b-wave in both eyes were slightly decreased, and the amplitudes of light adaptation 3.0 a-wave and b-wave were severely decreased. The color of optic disc in both eyes was light red, the macular area was atrophic, the foveal reflection disappeared, and the peripheral retina was punctate pigmentation. The main fundus changes in 2 patients were macular atrophy. The proband of pedigree 1 carried compound heterozygous variations c.439-2A>G (M1) and c.676delT (p.F226fs) (M2) on CDHR1 gene. Her father and mother carried M2 and M1 heterozygous mutations, respectively. The proband of pedigree 2 carried compound heterozygous variations c.2665dupC (p.L889fs) (M3) and c.878T>C (p.L293P) (M4) on C2orf71 gene. His father and mother carried M4 and M3 heterozygous mutations, respectively. According to ACMG guidelines and on line tools, 4 variations were considered as pathogenic level. Conclusions:M1 and M2 of CDHR1 gene and M3 and M4 of C2orf71 gene are new pathogenic mutations of CORD. All patients presented with the clinical phenotype of decreased visual acuity and macular atrophy.

Objective:To identify 3 the disease-causing genes and mutations of Leber congenital amaurosis (LCA), and to study the correlation of phenotype and genotype.Methods:A retrospective study. Four LCA patients and seven family members who were diagnosed by eye examination in Ning Xia Eye Hospital of People's Hospital of Ningxia Hui Autonomous Region from January to December 2021 were included in the study. Four patients were from 3 unrelated families. Detailed collection of medical history and family history were received. Related ophthalmologic examination were collected and genomic DNA was extracted from peripheral blood. Whole-exome sequencing method was used for genetic diagnosis. The identified variant was confirmed with Sanger sequencing. Potential pathogenic mutation was analyzed using software and conserved domain analysis and performed co-separated analysis between the family member and the proband.Results:Of the 4 patients, 1 patient was males and 3 patients were females; the age was from 4 to 18 years. Nystagmus were seen in 3 cases, finger pressing eyes and night blindness was seen in 1 cases; electroretinogram showed 4 cases of extinction or near extinction. The foveal reflection was visible in all eyes, and there was no obvious abnormality in the peripheral retina. One eye had strong reflection signal with raised ellipsoid in macular area; two eyes had weak reflection signal faintly visible between retinal layers; 1 eye had increased blood vessel branches, peripheral retinal non-perfusion area with capillary leakage; annular strong autofluorescence in macular area 4 eyes. No obvious abnormality was found in the phenotypes of family members. Genetic testing showed that the proband of pedigree 1 (Ⅱ-1) was found a homozygous missense mutation in c.640A>T (p.C214S) (M1) of PRPH2 gene. The proband of pedigree 2 (Ⅱ-2) was found compound heterozygous mutation in c.1256G>A(p.R419Q) (M2) and c.1A>C (p.M1L) (M3) of TULP1 gene. The proband 3 (Ⅱ-1) and her sister (Ⅱ-2) were both found compound heterozygous mutation in c.1943T>C (p.L648P) (M4) and c.380C>T (p.P127L) (M5) of GUCY2D gene. The parents and sister (Ⅱ-1) of the proband in family 2 and the parents of the proband in family 3 were all carriers of the corresponding heterozygous variant. M1, M3, M4, M5 were novel mutations and unreported. The genotype and disease phenotype were co-segregated within the family. According to the analysis of pedigree and genetic testing results, all 3 families were autosomal recessive inheritance. The amino acid conservation analysis found that M1, M2, M3, M4, and M5 were highly conserved among species. The results of bioinformatics analysis were all pathogenic variants. Conclusions:PRPH2 gene M1, TULP1 gene M3, and GUCY2D gene M4, M5 were novel mutations and not been reported in the literature and database. This research expanded the gene mutation spectrum of LCA. The patients with LCA have available characterristics, including onset age, varying ocular fundus and severe visual impairment.

Objective To investigate the effects of dorsal hippocampal lesions (DH) or fimbria-fornix transection (FF) on the learning and memory of conditioned fear and the heart rate and blood pressure in rats.Methods Nineteen male adult Wistar rats were used in this experiment.They were implanted telemetry sensors in their abdominal aortas.Two week later,six of the rats were subjected to permanent NMDA-induced neurotoxic lesions to the dorsal hippocampus (DH) and seven for the fimbria-fornix transection (FF)through stereotactic brain surgery,the left six were treated with saline as the control (Sham).All rats were subjected to a conditioned fear experiment.Meanwhile,changes in heart rate and blood pressure were measured.Results There was no significant difference in heart rate and blood pressure among the rats with the hippocampal operation or fimbria-fornix transection.In the acquisition of conditioned fear,there were significant difference in freezing time among the three group in both inter-trial-interval (ITI) and conditioned stimulus (CS) process (all P＜0.05).The freezing time of the FF group showed significantly lower than that of the Sham group (P＜0.05).There was no significant difference in heart rate and blood pressure among the three group(P＞0.05).In the test of conditioned contextual fear memory,the freezing time percentage in the FF group ((0.31±0.16) ％) significantly lower than that in the Sham group ((2.78± 1.23) ％) (P＜0.05)at the first 3 min of the test.There was a significant difference in heart rate among the three group.The heart rate of FF group ((436.42± 10.16) times/min) was significantly lower than that of the Sham group ((472.48±4.43) times/min,P＜0.01) and the DH group ((469.94 ±7.36)times/min,P＜0.01).In the test of conditioned tone fear memory.The freezing time percentage in FF group ((18.78±6.29) ％) was significantly lower than that in the Sham ((51.77±9.33)％,P＜0.01) and DH group ((59.19±8.13)％,P＜0.01),but the freezing time percentage between the later two groups had no difference (P=0.52).The synchronous telemetry measurement showed there was no significant difference both in the heart rate and the blood pressure among the groups (all P＞0.05) during the conditioned tone test.Conclusion The dorsal hippocampal lesions and fimbria-fornix transection in rats can significantly reduce the learning and memory ability in conditioned fear and scene fear in rats,and the effect of fimbria-fornix transection is more obvious.The decrease in,fear memory is not synchronously reflected in heart rate and blood pressure in rats.

Objective To evaluate the role of calcium channel in the mechanism of the generation and maintenance of bursting firing of substantia nigra pars compacta (SNc) dopaminergic neurons in rats.Methods Using the patch clamp technique,we observed the firing pattern switching features after adding 10 μmol/L N-methyl-D-aspartic acid (NMDA),compared the changes of whole-calcium current and L-type calcium current with or without NMDA,and analyzed the correlation between the generation of burst firing and L-type calcium channel activation.Results After NMDA treatment,the firing pattern of SNc dopaminergic neurons changed to burst firing,which was compromised by a charastistic high plateau potential and series of action potential on it.The current density of L-type calcium current increased significantly after adding NMDA,which,from (2.86 ±0.26) pA/pF (n =28),significantly increased to (3.75 ± 0.18) pA/pF (n =34 ; t =7.52,P =0.002 8).The high plateau potential was almost abolished with the application of verapamil,a specific antagonist of L-type calcium channel.Consiusion NMDA could induce the firing pattern changed to burst firing in SNc dopaminergic neurons,while L-type calcium channel contributes to the process of generation and maintenance of burst firing.

Objective To investigate the expression of CD40 and CD40L on the surface of peripheral blood mononuclear cells(PBMCs)in asthmatic rats and the effect of anti-CD40L McAb on cytokines of it.Methods Flow cytometry and RT-PCR were used to detect the expression of CD40 and CD40L of PBMCs ih asthmatic rats.After the PBMCs Was treated with anti.CIMOL McAb.ELISA was used to detect the levels of IL-4 and IFN-γin the supematants of cultured cells.Results Compared with the normal control group.the expression of CD40 and CD40L of PBMCs in asthImatic rats increased(P＜0.05).Compared with the untreated group,the level of IL-4 and the ratio of IL4/IFN-γ decreased after the PBMCs were treated with anti-CD40L McAb(P＜0.05).Conclusion The expression of CD40 and CD40L on the surface of PBMCs in asthmatic rats Was unregulated.Anti-CD40L Mcab Can decrease the level of IL-4 and the ratio of IL_4/IFN-γ.

The changes of CD4(+)CD25(+) regulatory T cells (CD4(+)CD25(+) Treg) and Foxp3 mRNA in peripheral blood mononuclear cells (PBMCs) from patients with asthma were investigated in order to elucidate the possible roles of CD4(+)CD25(+) Treg in the development of asthma. The peripheral blood samples were collected from 29 healthy controls (normal control group) and 78 patients with asthma which included 30 patients in exacerbation group, 25 patients in persistent group, and 23 patients in remission group. By using flow cytometry and RT-PCR, the CD4(+)CD25(+) Treg ratio and Foxp3 mRNA in PBMCs were detected. The CD4(+)CD25(+) Treg ratio and Foxp3 mRNA in PBMCs of exacerbation and persistent groups were lower than that of remission and normal control group (P<0.05). Although the CD4(+)CD25(+) Treg ratio and Foxp3 mRNA of remission group also lower than that of normal control group, there was no significant difference between them (P>0.05). As compared with persistent group, exacerbation group had lower CD4(+)CD25(+) Treg ratio and Foxp3 mRNA (P<0.05). It was indicated that the decrease of CD4(+)CD25(+) Treg ratio and its function in PBMCs may be responsible for pathogenesis of asthma.

The changes of CD4+CD25+ regulatory T cells (CD4+CD25+ Treg) and Foxp3 mRNA in peripheral blood mononuclear cells (PBMCs) from patients with asthma were investigated in order to elucidate the possible roles of CD4+CD25+ Treg in the development of asthma. The peripheral blood samples were collected from 29 healthy controls (normal control group) and 78 patients with asthma which included 30 patients in exacerbation group, 25 patients in persistent group, and 23 patients in remission group. By using flow cytometry and RT-PCR, the CD4+CD25+ Treg ratio and Foxp3 mRNA in PBMCs were detected. The CD4+CD25+ Treg ratio and Foxp3 mRNA in PBMCs of exacerbation and persistent groups were lower than that of remission and normal control groups (P＜0.05). Although the CD4+CD25+ Treg ratio and Foxp3 mRNA of remission group were also lower than that of normal control group, there was no significant difference between them (P＞0.05). As compared with persistent group, exacerbation group had lower CD4+CD25+ Treg ratio and Foxp3 mRNA (P＜0.05). It was indicated that the decrease of CD4+CD25+Treg ratio and its function in PBMCs may be responsible for pathogenesis of asthma.

In order to investigate the clinical value of vascular endothelial growth factor (VEGF) combined with interferon-γ (IFN-γ) in diagnosing malignant pleural effusion and tuberculous plearal effusion, 42 cases of malignant pleurai effusion and 45 cases of tuberculous plcural effusion in Tongji Hospital, from March 2004 to May 2005, were included. The carcinoembryonic antigen (CEA), VEGF and IFN-γ levels of pleural effusion were detected by using ELISA, and adenosine deaminasc (ADA) activity was determined by using enzyme kinetic analytical method. The sensitivity, specific-ity, accuracy and area under the curve (AUCROC) of CEA and VEGF, VEGF/IFN-γ ratio, ADA and IFN-γ were measured by receiver operating characteristic curve (ROC). The results showed that CEA, VEGF levels and VEGF/IFN-γ ratio were significantly higher and the ADA and IFN-γ levels were significantly lower in malignant group than those in tuberculous group (P<0.01). The sensitivity, specificity, accuracy and AUCROC of VEGF/IFN-γ ratio (88.7%, 99.8%, 94.4%, 0.96 respectively) were higher than those of CEA (67.8%, 96.1%, 82.4%, 0.78 respectively) and VEGF (81.5%, 84.3%,82.9%, 0.79 respectively). The sensitivity, specificity, accuracy and AUCROC of IFN-γ (85.7%, 96.4%,90.9%, 0.94 respectively) were higher than those of ADA (80.2%, 87.6%, 83.8%, 0.81 respectively).It was concluded that VEGF/IFN-γ ratio and IFN-γ could be used as valuable parameters for the dif-ferential diagnosis of malignant pleural effusion and tuberculous pleural effusion.