Objective:To observe and analyze the pathogenic genes and clinical phenotype characteristics of retinitis pigmentosa sinepigmento(RPSP).Methods:A retrospective clinical study. Two patients (proband) and five family members from two RPSP families admitted to Xiamen Eye Center of Xiamen University in December 2022 and Shenzhen Eye Hospital in July 2023 were included in the study. Two families have no blood relationship and were both Han Chinese. Detailed ocular and systemic medical history and specialized examinations were performed for all members, including color fundus photography, fundus autofluorescence (FAF), and full field electroretinogram (ff-ERG) examination. The peripheral venous blood of all members was collected, and genomic DNA was extracted. Pathogenic genes and their loci were screened using whole exome high-throughput sequencing technology. Sanger sequencing was used to verify the pathogenic genes in the two pedigrees. The pathogenicity of candidate variants was evaluated according to the American Society for American College of Medical Genetics and Genomics (ACMG) classification criteria and guidelines for genetic variants.Results:The two probands were male, aged 9 and 7 years, respectively. The main complaint was poor binocular vision for 6 and 3 years and poor treatment effect of amblyopia. The proband (Ⅱ2) in family 1 had a pale red color on the optic disc, with leopard-like changes in the posterior pole and thinner retinal arteries. FAF showed mottled fluorescence attenuation outside the macular vascular arch. There was no significant waveform in both bright and dark visual responses of ff-ERG. He also had 6-toed deformity of both feet, renal cysts, and a slightly overweight body. The clinical diagnosis was non-pigmentary retinitis pigmentosa. The proband of family 2 (Ⅱ1) had poor binocular vision in a dark environment and had atrophy lesions on the nasal side of the optic disc and leopard print like changes in the fundus. FAF showed uneven enhancement in the fovea. ff-ERG showed severe abnormalities in dark and light response, with significant decrease and delay in b-wave amplitude and latency. He had no other systemic abnormalities. The clinical diagnosis was binocular RPSP. There were no abnormal ocular and systemic manifestations in the two family members. Gene sequencing revealed a homozygous mutation (c.534+1G>T) of BBS2 gene, which was inherited from the mother and father respectively. Based on clinical manifestations and genetic testing results, the final diagnosis was Bardet Biedl syndrome. The genetic sequencing results confirmed a novel compound heterozygous mutation (c.950T>G: p. Leu317Arg missense mutation and c.849+1G>C splicing mutation) of BBS7 gene. His father (Ⅰ1) and mother (Ⅰ2) carried M1 heterozygous variants. Combined with the clinical manifestations and genetic testing results, the final diagnosis was Bardet-Biedl syndrome (BBS). Family 2 proband (Ⅱ1) carried the BBS7 gene C.950T>G (p.Leu317Arg) (M2) missense variation and C.849 +1G>C (M3) splice site variation. His father (Ⅰ1) and mother (Ⅰ2) carried M3 shear site variation and M2 missense variation, respectively. The two families all fit the autosomal recessive inheritance pattern, and the genotype and clinical phenotype were coseparated. According to ACMG guidelines, M1, M2 and M3 were all identified as possible pathogenic variants. Conclusions:BBS2 gene M1 homozygous variation and BBS7 gene M2, M3 complex heterozygous variation are the possible pathogenic genes in family 1 and family 2, respectively. Two families are affected by BBS and RPSP, respectively.

With the development of the times,the ancient view of life has been changing.Some excellent ideas,methods and tech-nologies with great ecological value have been or are being alienated under the impact of scientific and technological progress.The cog-nition of the value of life has gradually faded,and simple and easy technical methods have been distorted by Western values.In order to make the TCM health preservation knowledge system truly an important part of the Healthy China strategy,it is necessary to correct the cognition of the essence of life,clarify the definition of the connotation and extension of health preservation,set the philosophical premise of health preservation rules,examine the value and significance of the concept of life and death,and solve these basic theoreti-cal elements,so as to give full play to the guiding value of TCM life philosophy to human health.

Objective To investigate the efficacy of repetitive transcranial magnetic stimulation(rTMS)on post-stroke depression(PSD)patients and changes in cerebral white matter fiber tracts based on diffusion tensor imaging.Methods Thirty patients with PSD were randomly divided into rTMS group(n=15)and sham stimulation group(n=15).Based on conventional treatment for cerebrovascular diseases,the rTMS group was given continuous high-frequency(10 Hz)rTMS for 20 sessions,while the sham stimulation group was given sham stimulation for 20 sessions.The NIHSS score,Hamilton depression scale(HAMD)score,Pittsburgh sleep quality index(PSQI)score,Barthel index(BI),and fractional anisotropy(FA)values of various fiber tracts were compared between the two groups before and after treatment.Fifteen non-depressed patients after stroke who visited during the same period were selected as the control group,and the differences in relevant scale scores and imaging indicators between them and PSD patients were compared.Results There were significant differences in left cortical spinal tract(CST),cingulum and cingulate gyrus(CC)and inferior fronto-occipital fasciculus(IFO)FA values among rTMS group,sham stimulation group and control group before treatment(all P＜0.05).There was no significant difference in the FA value of each fiber bundle between rTMS group and sham stimulation group before treatment(all P＞0.05).After treatment,the FA values of left CST,IFO and uncinate fasciculus(Unc)in the rTMS group were significantly higher than those in the sham stimulation group(all P＜0.05).Compared with those before treatment,the HAMD score,PSQI score,NIHSS score after treatment in the rTMS group and the PSQI score,NIHSS score in the sham stimulation group were significantly decreased,and the BI score in the rTMS group and the sham stimulation group was significantly increased(all P＜0.05).Compared with those in the sham stimulation group,the HAMD score and PSQI score were significantly decreased,and the BI score was significantly increased in the rTMS group after treatment(all P＜0.05).The FA values of left CST,CC and IFO in PSD patients were negatively correlated with HAMD score(r=-0.7211,r=-0.6500,r=-0.7265).Conclusions The microstructure damage of left CST,CC and IFO may be involved in the occurrence of PSD.rTMS can repair the microstructure damage of white matter fiber bundles,thus effectively improving the depression of PSD patients.

In order to explore the role of signal transducer and activator of transcription 3(STAT3)in the infection process of porcine hemagglutinating encephalomyelitis virus(PHEV),Western blot,qRT-PCR and indirect immunofluorescence experiments were used to detect the phosphoryla-tion level and subcellular localization changes of STAT3 after PHEV infection.The replication of PHEV were examined in cells with STAT3 knockdown or overexpression,respectively.The results showed the phosphorylation level of STAT3 at tyrosine 705 was significantly increased after PHEV infection,and the expression of STAT3 in the nucleus increased.In addition,STAT3 knock-down in cells can significantly inhibit PHEV replication.The above results further reveal the path-ogenic mechanism of PHEV and provide a theoretical basis for the research of anti-PHEV drugs.

Objective To investigate the efficacy of repetitive transcranial magnetic stimulation(rTMS)on post-stroke depression(PSD)patients and changes in cerebral white matter fiber tracts based on diffusion tensor imaging.Methods Thirty patients with PSD were randomly divided into rTMS group(n=15)and sham stimulation group(n=15).Based on conventional treatment for cerebrovascular diseases,the rTMS group was given continuous high-frequency(10 Hz)rTMS for 20 sessions,while the sham stimulation group was given sham stimulation for 20 sessions.The NIHSS score,Hamilton depression scale(HAMD)score,Pittsburgh sleep quality index(PSQI)score,Barthel index(BI),and fractional anisotropy(FA)values of various fiber tracts were compared between the two groups before and after treatment.Fifteen non-depressed patients after stroke who visited during the same period were selected as the control group,and the differences in relevant scale scores and imaging indicators between them and PSD patients were compared.Results There were significant differences in left cortical spinal tract(CST),cingulum and cingulate gyrus(CC)and inferior fronto-occipital fasciculus(IFO)FA values among rTMS group,sham stimulation group and control group before treatment(all P＜0.05).There was no significant difference in the FA value of each fiber bundle between rTMS group and sham stimulation group before treatment(all P＞0.05).After treatment,the FA values of left CST,IFO and uncinate fasciculus(Unc)in the rTMS group were significantly higher than those in the sham stimulation group(all P＜0.05).Compared with those before treatment,the HAMD score,PSQI score,NIHSS score after treatment in the rTMS group and the PSQI score,NIHSS score in the sham stimulation group were significantly decreased,and the BI score in the rTMS group and the sham stimulation group was significantly increased(all P＜0.05).Compared with those in the sham stimulation group,the HAMD score and PSQI score were significantly decreased,and the BI score was significantly increased in the rTMS group after treatment(all P＜0.05).The FA values of left CST,CC and IFO in PSD patients were negatively correlated with HAMD score(r=-0.7211,r=-0.6500,r=-0.7265).Conclusions The microstructure damage of left CST,CC and IFO may be involved in the occurrence of PSD.rTMS can repair the microstructure damage of white matter fiber bundles,thus effectively improving the depression of PSD patients.

With the development of the times,the ancient view of life has been changing.Some excellent ideas,methods and tech-nologies with great ecological value have been or are being alienated under the impact of scientific and technological progress.The cog-nition of the value of life has gradually faded,and simple and easy technical methods have been distorted by Western values.In order to make the TCM health preservation knowledge system truly an important part of the Healthy China strategy,it is necessary to correct the cognition of the essence of life,clarify the definition of the connotation and extension of health preservation,set the philosophical premise of health preservation rules,examine the value and significance of the concept of life and death,and solve these basic theoreti-cal elements,so as to give full play to the guiding value of TCM life philosophy to human health.

In order to explore the role of signal transducer and activator of transcription 3(STAT3)in the infection process of porcine hemagglutinating encephalomyelitis virus(PHEV),Western blot,qRT-PCR and indirect immunofluorescence experiments were used to detect the phosphoryla-tion level and subcellular localization changes of STAT3 after PHEV infection.The replication of PHEV were examined in cells with STAT3 knockdown or overexpression,respectively.The results showed the phosphorylation level of STAT3 at tyrosine 705 was significantly increased after PHEV infection,and the expression of STAT3 in the nucleus increased.In addition,STAT3 knock-down in cells can significantly inhibit PHEV replication.The above results further reveal the path-ogenic mechanism of PHEV and provide a theoretical basis for the research of anti-PHEV drugs.

Objective:To observe and analyze the pathogenic genes and clinical phenotype characteristics of retinitis pigmentosa sinepigmento(RPSP).Methods:A retrospective clinical study. Two patients (proband) and five family members from two RPSP families admitted to Xiamen Eye Center of Xiamen University in December 2022 and Shenzhen Eye Hospital in July 2023 were included in the study. Two families have no blood relationship and were both Han Chinese. Detailed ocular and systemic medical history and specialized examinations were performed for all members, including color fundus photography, fundus autofluorescence (FAF), and full field electroretinogram (ff-ERG) examination. The peripheral venous blood of all members was collected, and genomic DNA was extracted. Pathogenic genes and their loci were screened using whole exome high-throughput sequencing technology. Sanger sequencing was used to verify the pathogenic genes in the two pedigrees. The pathogenicity of candidate variants was evaluated according to the American Society for American College of Medical Genetics and Genomics (ACMG) classification criteria and guidelines for genetic variants.Results:The two probands were male, aged 9 and 7 years, respectively. The main complaint was poor binocular vision for 6 and 3 years and poor treatment effect of amblyopia. The proband (Ⅱ2) in family 1 had a pale red color on the optic disc, with leopard-like changes in the posterior pole and thinner retinal arteries. FAF showed mottled fluorescence attenuation outside the macular vascular arch. There was no significant waveform in both bright and dark visual responses of ff-ERG. He also had 6-toed deformity of both feet, renal cysts, and a slightly overweight body. The clinical diagnosis was non-pigmentary retinitis pigmentosa. The proband of family 2 (Ⅱ1) had poor binocular vision in a dark environment and had atrophy lesions on the nasal side of the optic disc and leopard print like changes in the fundus. FAF showed uneven enhancement in the fovea. ff-ERG showed severe abnormalities in dark and light response, with significant decrease and delay in b-wave amplitude and latency. He had no other systemic abnormalities. The clinical diagnosis was binocular RPSP. There were no abnormal ocular and systemic manifestations in the two family members. Gene sequencing revealed a homozygous mutation (c.534+1G>T) of BBS2 gene, which was inherited from the mother and father respectively. Based on clinical manifestations and genetic testing results, the final diagnosis was Bardet Biedl syndrome. The genetic sequencing results confirmed a novel compound heterozygous mutation (c.950T>G: p. Leu317Arg missense mutation and c.849+1G>C splicing mutation) of BBS7 gene. His father (Ⅰ1) and mother (Ⅰ2) carried M1 heterozygous variants. Combined with the clinical manifestations and genetic testing results, the final diagnosis was Bardet-Biedl syndrome (BBS). Family 2 proband (Ⅱ1) carried the BBS7 gene C.950T>G (p.Leu317Arg) (M2) missense variation and C.849 +1G>C (M3) splice site variation. His father (Ⅰ1) and mother (Ⅰ2) carried M3 shear site variation and M2 missense variation, respectively. The two families all fit the autosomal recessive inheritance pattern, and the genotype and clinical phenotype were coseparated. According to ACMG guidelines, M1, M2 and M3 were all identified as possible pathogenic variants. Conclusions:BBS2 gene M1 homozygous variation and BBS7 gene M2, M3 complex heterozygous variation are the possible pathogenic genes in family 1 and family 2, respectively. Two families are affected by BBS and RPSP, respectively.

Objective: To analyze the impact of persistent obesity on their lung function, so as to offer insights for implementing intervention measures to increase lung function in obese school age children. Methods: A total of 335 children from the Sheyang Mini Birth Cohort established in 2009 in Yancheng City, Jiangsu Province, who participated in the follow up at the ages of 7 years (2016) and 10 years (2019), were selected as the study participants. Physical measurements including height, weight, and lung function were recorded. According to the World Health Organization standard, that is, gender and age specific to correct the body mass index to calculate the body mass index Z score, was used to evaluate the obesity status of children at the age of 7 and 10. Children were divided into four groups, including sustained non obesity group, restored obesity group, newly classified obesity group, and persistent obesity group. Meanwhile, the lung function prediction equations recommended by the Global Lung Function Initiative were used to standardize the lung function indexes of children. Pulmonary function differences among these groups were examined, and the relationship between childhood obesity and pulmonary function was longitudinally analyzed using generalized estimating equations. Results: The prevalence of obesity were 9.0% and 16.1% at the age of 7 and 10 years, respectively. The proportion of both newly classified and persistent obesity group were 8.1%, respectively. The forced expiratory volume in one second (FEV 1) and forced vital capacity (FVC) were (1 269.90±202.70) and (1 415.70±230.00) mL, respectively, at the age of 7 years. FEV 1 and FVC at the age of 10 years were (1 440.80±403.20) and (1 555.60±517.60) mL, respectively. Cross sectional analysis at age 7 showed that forced expiratory flow at 75% vital capacity (FEF 75 ) ( β=-0.52, 95%CI =-0.96--0.07) and maximal mid expiratary flow (MMEF) ( β=-0.45, 95%CI =-0.89--0.00) were significantly lower in obese children compared to their non obese peers ( P < 0.05). Longitudinal analysis indicated that obese children had lower levels of lung pulmonary function, with a statistically significant difference in FEV 1 ( β=-0.44, 95%CI=-0.85--0.02, P <0.05). There was no significant difference among the various obesity groups ( P >0.05), while gender stratified results revealed significant reductions in FEV 1/FVC in newly classified obese girls at age 10 years ( β=-1.76, 95%CI =-3.13--0.38) and in MMEF in persistently obese girls at age 10 years ( β=-1.44, 95%CI = -2.79- -0.09) ( P <0.05). Conclusion Obesity may contribute to reduced lung function levels in school aged children, with newly classified and persistent obesity having more pronounced effects on lung function in girls.

Objective To analyze the relationship of serum S100 calcium binding protein A4(S100A4)and pentraxin-3(PTX3)levels with left atrial appendage thrombosis in patients with NVAF.Methods A total of 120 elderly NVAF patients treated in our hospital from March 2020 to March 2023 were enrolled in this study.According to their echocardiograms,they were divided into a left atrial appendage thrombosis group(40 cases)and a non-thrombosis group(80 cases).Serum S100A4 and PTX3 levels were detected.Spearman correlation analysis was applied to ana-lyze the relationship between serum S100A4 and PTX3 levels and left atrial appendage thrombo-sis.Logistic regression analysis was conducted to analyze the factors affecting left atrial appendage thrombosis.Results The serum levels of S100A4 and PTX3 were higher in the thrombosis group than the non-thrombosis group(P＜0.01).The serum levels of S100A4 and PTX3 were positively correlated with left atrial appendage thrombosis(r=0.497,P=0.000;r=0.555,P=0.000).Heart failure,CHA2DS2-VASc score,B-type natriuretic peptide,uric acid,S100A4 and PTX3 were risk factors for left atrial appendage thrombosis in NVAF patients(P＜0.05,P＜0.01).Combination of serum S100A4 and PTX3 in predicting left atrial appendage thrombosis formation in NVAF patients had an AUC value of of 0.949(95％CI:0.893-0.981).Conclusion Serum S100A4 and PTX3 levels are increased in NVAF patients,they are related to left atrial appendage thrombosis,and their serum levels have certain predictive value for left atrial appendage thrombosis.