The growth and development of children is an important stage for health, and its monitoringand intervention are related to the long-term development of individuals. The construction of a standardized and multi-dimensional database of pediatric growth and development-related diseases is an important basis for realizing precise diagnosis and treatment and health management. Based on the needs of clinical practice, this study proposes to establish a specialized database of pediatric growth and development-related diseases that integrates facial phenotypes and clinical diagnosis and treatment information. This study elaborates on the construction process, including data sources, data collection content, and the operation and management of the database; and proposes key points for quality control, including the establishment of quality control nodes, database construction standards, and a full-process quality control framework. The above ensure the integrity, logic and effectiveness of the data, so that the database can provide an objective basis for the screening and diagnosis of pediatric growth and development-related diseases. On the basis of scientific data management and strict quality control, the database will help reveal the patterns of children's growth and development, and promote the level of children's health management.

Objective To analyze the genetic features of congenital aniridia in a family and to explore the characteristics of PAX6 gene mutations and differences in clinical phenotypes.Methods The medical history and clinical data of this family line were collected.Whole-exon gene sequencing and data analysis were performed,and homology modelling server SWISS-MODEL was applied to construct the corresponding protein model for analysis.Results All 4 individuals with onset in this family line had photophobia and difficulty in opening the eyes due to iris deficiency,with the same clinical phenotypes of aniridia,cataracts,and macular centro-concave dysplasia.But,there were still individual differences in phenotypes.Genetic examination showed that all 4 affected individuals were heterozygous for a heterozygous deletion shifted variant c.442_452del:p.M148Afs*48 on the PAX6 gene,which is highly conserved among species.Homozygous modeling suggested that the mutated PAX6 gene ultimately led to differential changes in protein conformation.Conclusion The newly identified PAX6 gene variant is not phenotypically identical among members of the family with congenital aniridia,and homology modeling analysis has increased the understanding that aberrant expression of PAX6 leads to structural abnormalities in the protein.Genetic examination may provide genetic evidence for this family line.

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare type of T-cell lymphoma. Despite the scarcity of reported BIA-ALCL cases in Asia, it is imperative to research early diagnosis. The crucial diagnostic criteria for BIA-ALCL include the presence of ALK - and CD30 + T cells exceeding 10% in the delayed seroma fluid. Furthermore, laboratory tests, such as histological examination of capsulectomies and analysis of clonal T-cell receptor (TCR) gene rearrangements, serve as important auxiliary diagnostic indicators. This article reported the case of a 56-year-old female patient who underwent bilateral breast augmentation with implants over 20 years ago. She presented with hardness, enlargement, and mild discomfort in her left breast. She was admitted to Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine in January 2023. MRI suggested implant rupture. Therefore, bilateral implant removal surgery was performed on February 2, 2023. Pathological examination of the fluid within the capsule of the left implant revealed a small number of ALK - and CD30 + T cells, with monoclonality observed in TCRγ gene rearrangement, indicating early changes suggestive of BIA-ALCL. Long-term follow-up is needed. The authors suggest that patients suspected of BIA-ALCL should undergo TCR gene rearrangement testing in addition to cytological and immunological examinations, which can provide guidance for the diagnosis, treatment, and necessary long-term follow-up of these patients.

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare type of T-cell lymphoma. Despite the scarcity of reported BIA-ALCL cases in Asia, it is imperative to research early diagnosis. The crucial diagnostic criteria for BIA-ALCL include the presence of ALK - and CD30 + T cells exceeding 10% in the delayed seroma fluid. Furthermore, laboratory tests, such as histological examination of capsulectomies and analysis of clonal T-cell receptor (TCR) gene rearrangements, serve as important auxiliary diagnostic indicators. This article reported the case of a 56-year-old female patient who underwent bilateral breast augmentation with implants over 20 years ago. She presented with hardness, enlargement, and mild discomfort in her left breast. She was admitted to Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine in January 2023. MRI suggested implant rupture. Therefore, bilateral implant removal surgery was performed on February 2, 2023. Pathological examination of the fluid within the capsule of the left implant revealed a small number of ALK - and CD30 + T cells, with monoclonality observed in TCRγ gene rearrangement, indicating early changes suggestive of BIA-ALCL. Long-term follow-up is needed. The authors suggest that patients suspected of BIA-ALCL should undergo TCR gene rearrangement testing in addition to cytological and immunological examinations, which can provide guidance for the diagnosis, treatment, and necessary long-term follow-up of these patients.

To investigate the effects of Pithecellobium clypearia extract on the tissue structure,in-flammatory lesions as well as microbial diversity in the intestinal of yellow-feathered broilers.2401-day-old yellow-feathered broilers were randomly divided into four groups(groups A,B,C and D),groups A,B and C were supplemented with Pithecellobium clypearia extract in basal diets with concentrations of 0.5,1.0 and 2.0 g/kg,respectively.Group D served as the control group without adding Pithecellobium clypearia extract in diets,and the full trial period lasted for 70 d.Duodenum and jejunum samples were collected on the 20th,40th and 70th days of the test,the vil-lous/crypt ratio of duodenum and jejunum were calculated,and the mRNA expression level of in-flammatory cytokine as well as related pathways were detected in each group,respectively.In addition,the contents of cecum were collected at 70 th day of the experiment and the microbial di-versity in cecum were also analysed by 16S rDNA sequencing.The results showed that adding 0.5 and 1.0 g/kg of Pithecellobium clypearia extract in the diet could significantly increase the veloci-ty height/crypt depth ratio of duodenum and jejunum(P＜0.05)compared to control group,as well as the mRNA expression level of tight junction protein(CLDN1 and CLDN5)in jejunum,which further improved the structure of mucous of intestinal.Pithecellobium clypearia extract could significantly(P＜0.05)decrease the mRNA expression level of inflammatory cytokine inclu-ding IL-1β,IL-8 and TNF-α,as well as the related pathway genes such as TLR4,MyD88 and NF-κB in jejunum,thus reduced the inflammatory lesions in intestinal.Pithecellobium clypearia ex-tract also could significantly increase the abundance of beneficial microbial such as Parabacteroide and Prevotellaceae,while significantly decrease the abundance of pathogenic microbial such as Proteobacteria in cecum(P＜0.05)and improve the microbial diversity in intestinal.In summary,Pithecellobium clypearia extract could improve the structure of intestinal tissue and the gut barri-er function,as well as the microbial diversity in cecum,and also decrease the inflammatory lesions in jejunum,which is helpful to the intestinal health for yellow-feathered broilers.The present study provides scientific basis for the development of Pithecellobium clypearia as a safe feed additive in the future.

ObjectiveTo investigate the protective effect and regulatory mechanism of berberine （BBR） against the senescence of ovarian granulosa cells. MethodA cell senescence model in the human ovarian granulosa-like tumor （KGN） cell line was induced by H₂O₂. A control group， a model group， and high-dose （1 μmol·L^-1） and low-dose （0.5 μmol·L^-1） BBR groups were set up. The cells in the model group and the BBR groups were incubated with 10 μmol·L^-1 H₂O₂ for 40 min. The effect of BBR on KGN cell proliferation was detected by cell counting kit-8 （CCK-8） assay. The effect of BBR on the senescence of KGN cells was detected by β-galactosidase staining. The effects of BBR on the apoptosis and ROS content of KGN cells were detected by flow cytometry. The effects of BBR on the mRNA expression of B-cell lymphoma-2 （Bcl-2）/Bcl-2-associated X protein （Bax）， cysteinyl aspartate-specific protease-3 （Caspase-3）， forkhead transcription factor O1 （FoxO1）， and catalase （CAT） was detected by Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR）. Western blot was used to detect the effects of BBR on protein expression of silent information regulator1 （SIRT1）， superoxide dismutase 2 （SOD2）， c-Jun N-terminal kinase （JNK）， FoxO1， autophagy-associated protein microtubule-associated protein light chain 3Ⅱ （LC3BⅡ）， mammalian ortholog of yeast Atg6 （Beclin-1）， and ubiquitin-binding protein p62. ResultAfter H₂O₂ induction for 40 min， the cell proliferation rate of the model group decreased compared with that of the control group （P<0.01）， and the cell proliferation rates of the BBR groups increased compared with that of the model group （P<0.05）. The results of β-galactosidase staining showed that the cells of the model group showed significant senescence compared with those of the control group （P<0.01）， and the cellular senescence in the BBR groups was reduced compared with that of the model group （P<0.01）. As revealed by flow cytometry， compared with the control group， the model group showed increased apoptosis rate （P<0.01）， and compared with the model group， BBR groups showed decreased apoptosis rates （P<0.05）. Meanwhile， the ROS content in the model group increased compared with that in the control group （P<0.01）， and compared with the model group， the BBR groups showed reduced cellular ROS content （P<0.01）. The Real-time PCR results showed that compared with the control group， the model group showed decreased mRNA expression of CAT and Bcl-2/Bax in KGN cells and increased mRNA expression of Caspase-3 and FoxO1 （P<0.05）， and compared with the model group， the BBR groups showed increased mRNA expression of CAT and Bcl-2/Bax （P<0.05） and reduced mRNA expression of Caspase-3 and FoxO1 in KGN cells （P<0.05）. As revealed by Western blot results， SIRT1， SOD2， and p62 protein levels decreased in the model group compared with those in the control group （P<0.01）， and JNK FoxO1， LC3BⅡ， and Beclin-1 protein levels increased （P<0.05）. After BBR intervention， SIRT1， SOD2， and p62 protein levels increased （P<0.01）， and JNK， FoxO1， LC3BⅡ， and Beclin-1 protein levels decreased compared with those in the model group （P<0.05）. ConclusionBBR has an inhibitory effect on ovarian granulosa cell senescence， and the mechanism is related to the inhibition of apoptosis and autophagy mediated by the SIRT1/FoxO1 pathway.

Objective:To study the effects of modified citrus pectin (MCP) on the viability and gene expressions of synovial fibroblasts (SF) as well as SF treated by galectin-3 (Gal-3).Methods:Rabbit SF was isolated and cultured in vitro. Then SF was treated with different concentrations of MCP (0, 250, 500, and 750 mg/L). In addition, SF was further treated with the same different concentrations of MCP after treatment with 10 μg/ml Gal-3 for 24 h. The viability of SF was detected by CCK-8 on the first, third, and fifth day after treatment. The mRNA expression of transforming growth factor-β1 (TGF-β1), type I collagen (COL1A2), and Gal-3 in SF was detected by real-time quantitative PCR. The synthesis of type I collagen in SF was investigated by immunofluorescence staining. Results:MCP, especially at a concentration of 500 mg/L can inhibit the proliferation of SF significantly (all P < 0.05) on the first, third, and fifth day after treatment. Compared with the control group, MCP at different concentrations induced different gene expression profiles. In particular, MCP at high concentrations can upregulate the expression of TGF-β1, COL1A2 and Gal-3 in SF. However, MCP shows no significant effect on the synthesis of type I collagen in SF. MCP can down-regulate the expression of TGF-β1, COL1A2, and significantly reduce the synthesis of type I collagen in SF after Gal-3 treatment. Particularly, the effect of MCP at a concentration of 500 mg/L on inhibiting the expression of TGF-β1, COL1A2, and Gal-3 in SF is significant. Conclusions:MCP can inhibit the excessive proliferation of SF and regulate gene expression in SF.

Objective:To explore the microvasculature changes in macular area of central retinal vein occlusion (CRVO) patients with macular edema (ME).Methods:A cross-sectional study was conducted.Fifteen patients with monocular ME secondary to CRVO (30 eyes) and 15 age- and gender-matched normal subjects (15 eyes) were enrolled in The Second Affiliated Hospital of Chongqing Medical University from November 2017 to March 2019.Best corrected visual acuity (BCVA), intraocular pressure, slit lamp microscope with pre-set lens, color fundus photography and optical coherence tomography (OCT) were performed in all subjects.The central macular thickness (CMT), foveal avascular zone (FAZ) area, FAZ perimeter, acircularity index (AI), vessel density of superficial retinal capillary plexus (SCP) and deep retinal capillary plexus (DCP) in 3 mm×3 mm macular area were measured by optical coherence tomography angiography instrument and compared between different groups.The correlation between BCVA, CMT and microvascular structural parrameters in ME eyes of CRVO patients was analyzed by Pearson linear correlation test.This study protocol adhered to the Declaration of Helsinki and was approved by the Ethics Committee of The Second Affiliated Hospital of Chongqing Medical University (No.2018-211).Written informed consent was obtained from each subject before any medical examination.Results:Compared with contralateral eyes, the FAZ area and FAZ perimeter of ME eyes were significantly increased, and AI, the vessel density of SCP and DCP were significantly decreased (all at P<0.01).Compared with normal control eyes, the FAZ area and FAZ perimeter of contralateral eyes of CRVO patients were significantly increased, and AI, the vessel density of DCP were significantly decreased (all at P<0.05).In ME eyes, the BCVA LogMAR was positively correlated with FAZ area and FAZ perimeter ( r=0.614, 0.609; both at P<0.05), and was negatively correlated with AI and vessel density of SCP ( r=-0.517, -0.593; both at P<0.058).In ME eyes, CMT was positively correlated with FAZ area and FAZ perimeter ( r=0.523, 0.610; both at P<0.05), and was negatively correlated with AI and the vessel density of SCP ( r=-0.537, -0.608; both at P<0.05). Conclusions:The characteristic microvascular change in ME secondary to CRVO eyes is the decrease of blood flow caused by the decrease of capillaries in fovea, and the same change in blood flow also exists in their contralateral eyes.The degree of ME and visual function damage are correlated with the degree of foveal damage and the blood flow in fovea.

Objective:To evaluate the risk factors for retinal vein occlusion(RVO) through a meta-analysis.Methods:The literatures on risk factors of RVO were searched in the Cochrane library, PubMed, and Embase databases.The literature search time ranged from the establishment of database to December 2018.The literatures were evaluated and filtrated by using Newcastle-Ottawa Scale, Stata software (version 12.0) was used for data processing.Results:A total of 31 case-control studies with 4 370 cases and 6 534 controls were included.The meta-analysis showed that hypertension (odds ratio[OR]=3.08, 95% confidence interval [CI]: 2.22-4.28), diabetes (OR=1.61, 95% CI: 1.11-2.32), hyperlipidemia (OR=1.73, 95% CI: 1.27-2.36), hyperlipoprotein (a)-emia (OR=2.72, 95% CI: 1.06-6.97), hyperhomocysteinemia (OR=1.86, 95% CI: 1.47-2.35), mutation of coagulation factor V Leiden gene (OR=1.89, 95% CI: 1.17-3.06) were risk factors for RVO.However, mutation of gene MTHFR C677T (OR=1.41, 95% CI: 0.93-2.14)、mutation of prothrombin gene G20210A (OR=1.20, 95% CI: 0.81-1.79) were not found to be risk factors for RVO.Subgroup analysis showed that the heterogeneity of hypertension and diabetes among people aged over 60 decreased from 88.9% and 75.7% to 59.8% and 63.2%, respectively.The heterogeneity of hyperhomocysteinemia in people aged below 60 decreased from 85.6% to 64.3%.The sensitivity analysis results showed that there were no significant differences after changing the analysis model.There was no publication bias among the literatures.Conclusions:Hypertension, diabetes, hyperlipidemia, hyperhomocysteinemia, hyperlipoprotein (a)-emia, mutation of coagulation factor V Leiden gene are risk factors for retinal vein occlusion.

Objective: To investigate the clinical characteristics of sleep disorders(SD)in patients with Alzheimer's disease(AD), and the relationship between SD and cognitive impairment. Methods: According to the inclusion and exclusion criteria of AD, 89 consecutive AD patients admitted to Beijing Tiantan Hospital from January 2016 to January 2017 were included.The Pittsburgh sleep quality index(PSQI)scale was used to evaluate the overall sleep status.The patients were randomized into the AD with SD(AD-SD)group(PSQI>7)and the AD without SD(AD-NSD)group(PSQI<7). The cognitive function of AD patients was evaluated by the Montreal cognitive assessment(MoCA)scale, and the overall cognitive function and cognitive domains were compared between the AD-SD and AD-NSD groups. Results: Of the 89 AD patients, 71 cases(79.78%)had SD.There was no significant difference in gender, age, age of onset, education level and disease duration between the AD-SD and AD-NSD groups(P>0.05). The factors in the PSQI scale had significant differences between AD-SD和AD-NSD groups, including sleep quality, sleep latency, sleep duration, sleep efficiency, sleep disturbance, administration of sleeping medication and daytime dysfunction(P<0.05). Compared with the AD-NSD group, the AD-SD group showed that the total score of MoCA scale was significantly reduced(P<0.05), and the scores of delayed recall and language were significantly decreased(P<0.05). There was a negative correlation of the sleep time with the total score of MoCA scale and the score of delayed recall in the AD-SD group(r=-0.245 and -0.249, P=0.041 and 0.039). Night SD was negative correlated with the total score of MoCA scale and the score of delayed recall(r=-0.248 and -0.283, P=0.038 and 0.018). Conclusions The incidence of AD-SD is up to 79.78%.AD-SD patients have a worse subjective sleep quality, longer time to fall asleep, shorter sleep time, lower sleep efficiency, higher night SD, more use of sleep drugs and more daytime dysfunction.General cognitive dysfunction, delayed recall and language impairment are more obvious in AD-SD patients.In AD-SD group, longer time to fall asleep and night SD are related to the general cognitive function and delayed recall.