Objective:To explore the correlative factors for insomnia severity in chronic insomnia patients using MemTrax memory test.Methods:Two hundred and twenty-two chronic insomnia patients (insomnia≥3 days per week with a duration≥3 months) recruited from Center for Preventive Treatment of Diseases, Guangdong Provincial Hospital of Chinese Medicine or through in-hospital advertisements from April 2024 to September 2024 were chosen. Pittsburgh Sleep Quality Index (PSQI) was used to evaluate the sleep quality over the last month; according to PSQI score, these patients were divided into mild insomnia group (scores of 7-10), moderate insomnia group (scores of 11-15) and severe insomnia group (scores of 16-21). MemTrax memory test was used to record the picture recognition accuracy and picture recognition reaction time, and MemTrax comprehensive index (MTx-Cp) was calculated; Patients' Health Questionnaire (PHQ-9), and Generalized Anxiety Disorder-7 scale(GAD-7) were used to evaluate the depression and anxiety status of these patients in recent 2 weeks. The clinical data, MemTrax test results, PHQ-9 and GAD-7 scores of patients with different degrees of chronic insomnia were compared. Spearman rank correlation analysis was used to investigate the correlation between insomnia severity and clinical data such as cognitive memory function in chronic insomnia patients.Results:Among the 220 chronic insomnia patients, 54 had mild insomnia, 111 had moderate insomnia, and 55 had severe insomnia. Severe insomnia patients had significantly higher percentages of those>50 years old and those using hypnotics compared with mild insomnia patients and moderate insomnia patients ( P<0.05). Compared with the mild insomnia patients and moderate insomnia patients, the severe insomnia patients exhibited significantly lower picture recognition accuracy (90%[86%, 94%], 88%[82%, 94%], 84%[78%, 92%]), significantly lower MTx-Cp (88.55±18.67, 84.41±20.93, 76.69±17.43), and significantly higher PHQ-9 score (9[6, 11], 9[6, 15], 12[8, 16], P<0.05). Moreover, severe insomnia patients had significantly longer picture recognition reaction time and higher GAD-7 score than mild insomnia patients (1.11[1.03, 1.24] s vs. 1.04[0.90, 1.15] s; 7[5, 13] vs. 6[3, 9], P<0.05). Spearman rank correlation analysis showed that insomnia severity in chronic insomnia patients was positively correlated with age, PHQ-9 score, GAD-7 score, and picture recognition reaction time, and negatively correlated with picture recognition accuracy and MTx-Cp ( P<0.05). Conclusion:Insomnia severity in patients with chronic insomnia is correlated with age, cognitive memory function, depression and anxiety.

Objective:To analyze the target signaling pathway of histone H3K27 methylation-induced podocyte injury, verify the regulatory effect of histone H3K27 methylation on podocyte injury in focal segmental glomerulosclerosis (FSGS) mice through target signaling pathway, and explore the mechanism of abnormal methylation of histone H3K27-induced podocyte injury in FSGS mice.Methods:(1) Cell experiments: primary cultured immortalized mouse podocytes MPC5 were cultured in vitro, and divided into control group, adriamycin (ADR) group, ADR+GSK-J4 (histone demethylase, KDM6B inhibitor) group, ADR+coumarin A1 (C-A1, JAK2 agonist) group and ADR+GSK-J4+C-A1 group. The transmission electron microscope was used to observe ultrastructure of podocytes. Immunofluorescence was used to detect the protein expression of H3K27me3 and nephrin in podocytes. The whole genome sequence of podocytes was obtained, the differentially expressed genes were screened, and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) were used for enrichment analysis. Real time-quantitative PCR and Western blotting were used to detect the gene and protein expression of JAK2-STAT3 signaling pathway in podocytes respectively. Enzyme-linked immunosorbent assay was used to detect interleukin 6 (IL-6), monocyte chemotactic protein 1 (MCP-1), α-smooth muscle actin (α-SMA) and transforming growth factor β1 (TGF-β1). (2) Animal experiments: EZH2 gene knock out ( EZH2podKo)-FSGS (tail vein injection of ADR) mouse models were established, and divided into EZH2ctrl+control group ( n=20), EZH2ctrl+FSGS ( n=20), EZH2podKo+control group ( n=30) and EZH2podKo+FSGS group ( n=30). HE staining was used to observe the morphology of kidney tissues. Immunohistochemistry was used to detect the H3K27me3 protein expression in podocytes. Real time-quantitative PCR and Western blotting were used to verify the gene and protein expression of JAK2-STAT3 signaling pathway respectively. Enzyme-linked immunosorbent assay was used to detect IL-6, MCP-1, α-SMA and TGF-β1 of kidney tissues. Results:(1) Cell experiments: Compared with control group, the nucleus shrank and ruptured, the cytoplasm showed vacuole, and mitochondria and endoplasmic reticulum swelled in ADR group, which verified that the podocyte injury model of ADR nephropathy was successfully established. Compared with control group, the protein expression level of H3K27me3 in ADR group was significantly lower ( P<0.05). Compared with ADR group, the protein expression level of H3K27me3 in podocytes in ADR+GSK-J4 group was significantly higher ( P<0.05), and there were 502 increased genes and 443 decreased genes. GO enrichment analysis showed that the differentially enriched peaks were mainly in ribonucleoprotein complex biogenesis, ribosome biogenesis, establishment of protein localization to organelle, and involved in regulation of receptor signaling pathway via JAK-STAT and receptor signaling pathway via JAK-STAT. Differential expressed genes were Irf1, Tnfrsf1a, S ocs1, Notch1, Gadd45a, Hes1 and Socs3, involving in the regulation of JAK-STAT signaling pathway. KEGG enrichment analysis showed that the differentially enriched peaks were mainly in amyotrophic lateral sclerosis, and the target genes were Mcl1, Egfr, Socs1, Cdkn1a, Pdgfa and Socs3, involving in the regulation of JAK-STAT signaling pathway. Compared with ADR group, the mRNA and protein expression levels of JAK2 and STAT3 in the ADR+GSK-J4 group were significantly lower, and the downstream inflammatory factors of IL-6, MCP-1 and α-SMA were significantly higher (all P<0.05). Compared with ADR group, the protein expression level of nephrin in ADR+GSK-J4 group was higher ( P<0.05), and the protein expression level of nephrin in ADR+C-A1 group was lower ( P<0.05). Compared with ADR+GSK-J4 group, the protein expression level of nephrin in ADR+GSK-J4+C-A1 group was lower ( P<0.05). (2) Animal experiments: Compared with EZH2ctrl+FSGS group, EZH2podKo+FSGS group showed obvious renal tissue damage, matrix hyperplasia in mesangial area with massive homogeneous substance deposition, apoptosis and necrosis of renal tubular epithelial cells, obvious thickening and extensive fusion of glomerular epithelial cells, basement membrane collapse, and compression and narrowing of capillary structure. Compared with EZH2ctrl+FSGS group, the protein expression level of H3K27me3 in EZH2podKo+FSGS group was significantly lower, and the mRNA and protein expression levels of JAK2 and STAT3, and the levels of IL-6, MCP-1, α-SMA and TGF-β1 were higher (all P<0.05). Conclusions:Abnormal methylation modification of H3K27 leads to change of target gene expression, activation of JAK2-STAT3 signaling pathway, podocyte injury, glomerulosclerosis and renal tubular injury, participating in the development of FSGS.

Objective:To analyze the incidence of pregnancy complications and maternal-neonatal outcomes in women with a history of preconception metabolic and bariatric surgery (MBS).Methods:This study was a retrospective cohort study. Pregnant women with singleton pregnancy who delivered in Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, from September 2019 to December 2024 were selected as the observation subjects. After propensity score matching, 42 women in the MBS group and 157 women in the control group were finally included. The general clinical characteristics, pregnancy status and maternal-neonatal outcomes of the two groups were compared and analyzed.Results:(1) There were no statistically significant differences in the age, proportion of preconception obesity, chronic hypertension, preconception diabetes and primipara between the MBS group and the control group (all P>0.05). The median interval between surgery and pregnancy of pregnant women in the MBS group was 14.0 months (6.0, 27.5 months). Twenty-nine pregnant women (69%, 29/42) were pregnant after 1 year of surgery, and 13 pregnant women (31%, 13/42) were pregnant within 1 year. (2) The levels of hemoglobin, serum iron and triglyceride in the MBS group were significantly lower than those in the control group in the second and third trimester (all P<0.05), but there were no statistically significant differences in the levels of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, total cholesterol and albumin between the two groups (all P>0.05). (3) Compared with the control group, the incidence of gestational diabetes mellitus in MBS group [21.7% (34/157) vs 7.1% (3/42)] and the proportion of large for gestational age [23.6% (37/157) vs 2.4% (1/42)] were lower; the incidence of anemia [6.4% (10/157) vs 33.3% (14/42)], fetal growth restriction [7.0% (11/157) vs 23.8% (10/42)] and small for gestational age [3.8% (6/157) vs 19.0% (8/42)] were higher; the differences were statistically significant (all P<0.05). There were no significant differences in the cesarean section rate, premature rupture of membranes rate, postpartum hemorrhage ≥1 000 ml rate, gestational age at delivery and preterm birth rate between the two groups (all P>0.05). The neonatal birth weight of the MBS group was significantly lower than that of the control group [(3 044±523) vs (3 256±491) g, P=0.016], but the proportion of neonates with 1-minute Apgar score<7 and the rate of neonatal intensive care unit admission were not statistically significant (all P>0.05). Conclusions:Women who got pregnant after MBS had lower neonatal weight, decreased incidence of gestational diabetes mellitus and large for gestational age, but higher incidence of small for gestational age and anemia in late pregnancy. It is necessary to focus on the nutritional management of pregnant women with MBS before pregnancy, improve anemia, and strengthen the ultrasound follow-up of fetal growth to optimize the perinatal outcome.

INTRODUCTION: Lecanemab has shown promise in treating early Alzheimer's disease (AD), but its safety and efficacy in Chinese populations remain unexplored. This study aimed to evaluate the safety and 6-month clinical outcomes of lecanemab in Chinese patients with mild cognitive impairment (MCI) or mild AD. METHODS: In this single-arm, real-world study, participants with MCI due to AD or mild AD received biweekly intravenous lecanemab (10 mg/kg). The study was conducted at Hainan Branch, Ruijin Hospital Shanghai Jiao Tong University School of Medicine. Patient enrollment and baseline assessments commenced in November 2023. Safety assessments included monitoring for amyloid-related imaging abnormalities (ARIA) and other adverse events. Clinical and biomarker changes from baseline to 6 months were evaluated using cognitive scales (mini-mental state examination [MMSE], montreal cognitive assessment [MoCA], clinical dementia rating-sum of boxes [CDR-SB]), plasma biomarker analysis, and advanced neuroimaging. RESULTS: A total of 64 patients were enrolled in this ongoing real-world study. Safety analysis revealed predominantly mild adverse events, with infusion-related reactions (20.3%, 13/64) being the most common. Of these, 69.2% (9/13) occurred during the initial infusion and 84.6% (11/13) did not recur. ARIA-H (microhemorrhages/superficial siderosis) and ARIA-E (edema/effusion) were observed in 9.4% (6/64) and 3.1% (2/64) of participants, respectively, with only two symptomatic cases (one ARIA-E presenting with headache and one ARIA-H with visual disturbances). After 6 months of treatment, cognitive scores remained stable compared to baseline (MMSE: 22.33 ± 5.58 vs . 21.27 ± 4.30, P = 0.733; MoCA: 16.38 ± 6.67 vs . 15.90 ± 4.78, P = 0.785; CDR-SB: 2.30 ± 1.65 vs . 3.16 ± 1.72, P = 0.357), while significantly increasing plasma amyloid-β 42 (Aβ42) (+21.42%) and Aβ40 (+23.53%) levels compared to baseline. CONCLUSIONS: Lecanemab demonstrated a favorable safety profile in Chinese patients with early AD. Cognitive stability and biomarker changes over 6 months suggest potential efficacy, though high dropout rates and absence of a control group warrant cautious interpretation. These findings provide preliminary real-world evidence for lecanemab's use in China, supporting further investigation in larger controlled studies. REGISTRATION ClinicalTrials.gov , NCT07034222.
Humans ; Alzheimer Disease/drug therapy* ; Male ; Female ; Aged ; Middle Aged ; Cognitive Dysfunction/drug therapy* ; Aged, 80 and over ; Amyloid beta-Peptides/metabolism* ; Biomarkers ; East Asian People

Objective:To explore the correlative factors for insomnia severity in chronic insomnia patients using MemTrax memory test.Methods:Two hundred and twenty-two chronic insomnia patients (insomnia≥3 days per week with a duration≥3 months) recruited from Center for Preventive Treatment of Diseases, Guangdong Provincial Hospital of Chinese Medicine or through in-hospital advertisements from April 2024 to September 2024 were chosen. Pittsburgh Sleep Quality Index (PSQI) was used to evaluate the sleep quality over the last month; according to PSQI score, these patients were divided into mild insomnia group (scores of 7-10), moderate insomnia group (scores of 11-15) and severe insomnia group (scores of 16-21). MemTrax memory test was used to record the picture recognition accuracy and picture recognition reaction time, and MemTrax comprehensive index (MTx-Cp) was calculated; Patients' Health Questionnaire (PHQ-9), and Generalized Anxiety Disorder-7 scale(GAD-7) were used to evaluate the depression and anxiety status of these patients in recent 2 weeks. The clinical data, MemTrax test results, PHQ-9 and GAD-7 scores of patients with different degrees of chronic insomnia were compared. Spearman rank correlation analysis was used to investigate the correlation between insomnia severity and clinical data such as cognitive memory function in chronic insomnia patients.Results:Among the 220 chronic insomnia patients, 54 had mild insomnia, 111 had moderate insomnia, and 55 had severe insomnia. Severe insomnia patients had significantly higher percentages of those>50 years old and those using hypnotics compared with mild insomnia patients and moderate insomnia patients ( P<0.05). Compared with the mild insomnia patients and moderate insomnia patients, the severe insomnia patients exhibited significantly lower picture recognition accuracy (90%[86%, 94%], 88%[82%, 94%], 84%[78%, 92%]), significantly lower MTx-Cp (88.55±18.67, 84.41±20.93, 76.69±17.43), and significantly higher PHQ-9 score (9[6, 11], 9[6, 15], 12[8, 16], P<0.05). Moreover, severe insomnia patients had significantly longer picture recognition reaction time and higher GAD-7 score than mild insomnia patients (1.11[1.03, 1.24] s vs. 1.04[0.90, 1.15] s; 7[5, 13] vs. 6[3, 9], P<0.05). Spearman rank correlation analysis showed that insomnia severity in chronic insomnia patients was positively correlated with age, PHQ-9 score, GAD-7 score, and picture recognition reaction time, and negatively correlated with picture recognition accuracy and MTx-Cp ( P<0.05). Conclusion:Insomnia severity in patients with chronic insomnia is correlated with age, cognitive memory function, depression and anxiety.

Objective:To analyze the incidence of pregnancy complications and maternal-neonatal outcomes in women with a history of preconception metabolic and bariatric surgery (MBS).Methods:This study was a retrospective cohort study. Pregnant women with singleton pregnancy who delivered in Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School, from September 2019 to December 2024 were selected as the observation subjects. After propensity score matching, 42 women in the MBS group and 157 women in the control group were finally included. The general clinical characteristics, pregnancy status and maternal-neonatal outcomes of the two groups were compared and analyzed.Results:(1) There were no statistically significant differences in the age, proportion of preconception obesity, chronic hypertension, preconception diabetes and primipara between the MBS group and the control group (all P>0.05). The median interval between surgery and pregnancy of pregnant women in the MBS group was 14.0 months (6.0, 27.5 months). Twenty-nine pregnant women (69%, 29/42) were pregnant after 1 year of surgery, and 13 pregnant women (31%, 13/42) were pregnant within 1 year. (2) The levels of hemoglobin, serum iron and triglyceride in the MBS group were significantly lower than those in the control group in the second and third trimester (all P<0.05), but there were no statistically significant differences in the levels of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, total cholesterol and albumin between the two groups (all P>0.05). (3) Compared with the control group, the incidence of gestational diabetes mellitus in MBS group [21.7% (34/157) vs 7.1% (3/42)] and the proportion of large for gestational age [23.6% (37/157) vs 2.4% (1/42)] were lower; the incidence of anemia [6.4% (10/157) vs 33.3% (14/42)], fetal growth restriction [7.0% (11/157) vs 23.8% (10/42)] and small for gestational age [3.8% (6/157) vs 19.0% (8/42)] were higher; the differences were statistically significant (all P<0.05). There were no significant differences in the cesarean section rate, premature rupture of membranes rate, postpartum hemorrhage ≥1 000 ml rate, gestational age at delivery and preterm birth rate between the two groups (all P>0.05). The neonatal birth weight of the MBS group was significantly lower than that of the control group [(3 044±523) vs (3 256±491) g, P=0.016], but the proportion of neonates with 1-minute Apgar score<7 and the rate of neonatal intensive care unit admission were not statistically significant (all P>0.05). Conclusions:Women who got pregnant after MBS had lower neonatal weight, decreased incidence of gestational diabetes mellitus and large for gestational age, but higher incidence of small for gestational age and anemia in late pregnancy. It is necessary to focus on the nutritional management of pregnant women with MBS before pregnancy, improve anemia, and strengthen the ultrasound follow-up of fetal growth to optimize the perinatal outcome.

Objective:To analyze the target signaling pathway of histone H3K27 methylation-induced podocyte injury, verify the regulatory effect of histone H3K27 methylation on podocyte injury in focal segmental glomerulosclerosis (FSGS) mice through target signaling pathway, and explore the mechanism of abnormal methylation of histone H3K27-induced podocyte injury in FSGS mice.Methods:(1) Cell experiments: primary cultured immortalized mouse podocytes MPC5 were cultured in vitro, and divided into control group, adriamycin (ADR) group, ADR+GSK-J4 (histone demethylase, KDM6B inhibitor) group, ADR+coumarin A1 (C-A1, JAK2 agonist) group and ADR+GSK-J4+C-A1 group. The transmission electron microscope was used to observe ultrastructure of podocytes. Immunofluorescence was used to detect the protein expression of H3K27me3 and nephrin in podocytes. The whole genome sequence of podocytes was obtained, the differentially expressed genes were screened, and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) were used for enrichment analysis. Real time-quantitative PCR and Western blotting were used to detect the gene and protein expression of JAK2-STAT3 signaling pathway in podocytes respectively. Enzyme-linked immunosorbent assay was used to detect interleukin 6 (IL-6), monocyte chemotactic protein 1 (MCP-1), α-smooth muscle actin (α-SMA) and transforming growth factor β1 (TGF-β1). (2) Animal experiments: EZH2 gene knock out ( EZH2podKo)-FSGS (tail vein injection of ADR) mouse models were established, and divided into EZH2ctrl+control group ( n=20), EZH2ctrl+FSGS ( n=20), EZH2podKo+control group ( n=30) and EZH2podKo+FSGS group ( n=30). HE staining was used to observe the morphology of kidney tissues. Immunohistochemistry was used to detect the H3K27me3 protein expression in podocytes. Real time-quantitative PCR and Western blotting were used to verify the gene and protein expression of JAK2-STAT3 signaling pathway respectively. Enzyme-linked immunosorbent assay was used to detect IL-6, MCP-1, α-SMA and TGF-β1 of kidney tissues. Results:(1) Cell experiments: Compared with control group, the nucleus shrank and ruptured, the cytoplasm showed vacuole, and mitochondria and endoplasmic reticulum swelled in ADR group, which verified that the podocyte injury model of ADR nephropathy was successfully established. Compared with control group, the protein expression level of H3K27me3 in ADR group was significantly lower ( P<0.05). Compared with ADR group, the protein expression level of H3K27me3 in podocytes in ADR+GSK-J4 group was significantly higher ( P<0.05), and there were 502 increased genes and 443 decreased genes. GO enrichment analysis showed that the differentially enriched peaks were mainly in ribonucleoprotein complex biogenesis, ribosome biogenesis, establishment of protein localization to organelle, and involved in regulation of receptor signaling pathway via JAK-STAT and receptor signaling pathway via JAK-STAT. Differential expressed genes were Irf1, Tnfrsf1a, S ocs1, Notch1, Gadd45a, Hes1 and Socs3, involving in the regulation of JAK-STAT signaling pathway. KEGG enrichment analysis showed that the differentially enriched peaks were mainly in amyotrophic lateral sclerosis, and the target genes were Mcl1, Egfr, Socs1, Cdkn1a, Pdgfa and Socs3, involving in the regulation of JAK-STAT signaling pathway. Compared with ADR group, the mRNA and protein expression levels of JAK2 and STAT3 in the ADR+GSK-J4 group were significantly lower, and the downstream inflammatory factors of IL-6, MCP-1 and α-SMA were significantly higher (all P<0.05). Compared with ADR group, the protein expression level of nephrin in ADR+GSK-J4 group was higher ( P<0.05), and the protein expression level of nephrin in ADR+C-A1 group was lower ( P<0.05). Compared with ADR+GSK-J4 group, the protein expression level of nephrin in ADR+GSK-J4+C-A1 group was lower ( P<0.05). (2) Animal experiments: Compared with EZH2ctrl+FSGS group, EZH2podKo+FSGS group showed obvious renal tissue damage, matrix hyperplasia in mesangial area with massive homogeneous substance deposition, apoptosis and necrosis of renal tubular epithelial cells, obvious thickening and extensive fusion of glomerular epithelial cells, basement membrane collapse, and compression and narrowing of capillary structure. Compared with EZH2ctrl+FSGS group, the protein expression level of H3K27me3 in EZH2podKo+FSGS group was significantly lower, and the mRNA and protein expression levels of JAK2 and STAT3, and the levels of IL-6, MCP-1, α-SMA and TGF-β1 were higher (all P<0.05). Conclusions:Abnormal methylation modification of H3K27 leads to change of target gene expression, activation of JAK2-STAT3 signaling pathway, podocyte injury, glomerulosclerosis and renal tubular injury, participating in the development of FSGS.

Objective To explore the standardized management mode of the Ethics Committee for organ donation after citizen’s death in hospitals. Methods The situations of ethical review before and after the standardized adjustment of the Ethics Committee of human organ donation in the First Affiliated Hospital of Chongqing Medical University were retrospectively analyzed. Baseline data of donors before and after standardized adjustment of the Ethics Committee of human organ donation were compared. The influence of standardized adjustment of the Ethics Committee on the attendance rate of committee members and duration of ethical review were analyzed. Results No significant differences were observed in donors' ethical review data, such as gender, age and death determination, before and after standardized adjustment of Ethics Committee structure (all P>0.05). Significant difference was noted regarding the cause of death in ethical review (P<0.05). Univariate analysis showed that there were significant differences in the impact of Ethics Committee standardization adjustment and cause of death on the attendance rate of committee members (both P<0.05). Multivariate analysis revealed that gender, cause of death and standardized adjustment of the Ethics Committee were the influencing factors of the attendance rate of committee members, and the attendance rate of committee members after standardized adjustment was higher than that before adjustment (P<0.05). Univariate analysis showed that there were statistically significant differences in the effects of Ethics Committee standardized adjustment, attendance rate of committee members and cause of death on the duration of ethical review (all P<0.05). Multivariate analysis indicated that standardized adjustment of the ethics committee was the influencing factor of the duration of ethical review, and the duration of ethics review after standardized adjustment was shorter than that before adjustment (P<0.05). Conclusions Appropriate arrangement of the total number of ethics committee members and standardizing the review process may improve the efficiency of ethical review. Scientific evaluation mechanism for ethical committee members should be established by dynamically adjusting the ethical committee members, clarifying the responsibilities and tasks of members and secretaries, aiming to further improve standardized management level of ethical review for organ donation after citizen’s death.

OBJECTIVE: To explore the genetic etiology for a Chinese pedigree affected with Alazami syndrome. METHODS: Genomic DNA was extracted for 2 patients and 2 unaffected members from the pedigree. Whole exome sequencing was carried out to detect potential variant in the proband, and the result was verified by Sanger sequencing. RESULTS: The proband and her sister were both found to harbor compound heterozygous variants of LARP7 gene, namely c.94A>T (p.Lys32*) and c.1141A>G (p.Lys381Glu), which were inherited from their father and mother, respectively. Both variants were predicted to be pathogenic based on bioinformatic analysis. CONCLUSION The two variants of the LARP7 gene, both were unreported previously, probably underlay the Alazami syndrome in this pedigree. Above finding has expanded the mutational spectrum of the LARP7 gene.
China ; Dwarfism ; Female ; Humans ; Intellectual Disability/genetics* ; Mutation ; Pedigree ; Ribonucleoproteins/genetics* ; Exome Sequencing

Ovarian cancer is a malignant tumor of female reproductive system with high morbidity and mortality. Currently， ovarian cancer patients are mainly treated by primary debulking surgery combined with taxotere/cyclophosphamide （TC） chemotherapy， with the five-year survival rate of 36%-46%. Chinese medicinal materials play a positive role in preventing the occurrence and development of ovarian cancer via multiple targets. The flavonoid monomers in representative Chinese herbal medicines， such as Epimedii Folium， Scutellariae Radix， Curcumae Longae Rhizoma， Ginkgo Folium， Bupleuri Radix， and Longicerae Japonicae Flos， have been proved to have significant anti-tumor activity and been widely used in the treatment of malignant tumors. We reviewed the relevant literature and summarized that flavonoid monomers can regulate multiple signaling pathways to inhibit cell proliferation， block tumor cell cycle， induce apoptosis and autophagy， reduce the ability of cell invasion and migration， inhibit tumor angiogenesis， and reverse platinum resistance， thereby inhibiting the occurrence and development of ovarian cancer. Such pathways include phosphatidylinositol 3- kinase （PI3K）/protein kinase B （Akt）/mammalian target of rapamycin （mTOR） signaling pathway， Janus kinase （JAK）/signal transducer and activator of transcription 3 （STAT3） signaling pathway， mitogen-activated protein kinase （MAPK） signaling pathway， secreted glycoprotein （Wnt）/β-catenin signaling pathway， Notch signaling pathway， and nuclear factor kappaB （NF-κB） signaling pathway. By reviewing the regulatory effect of flavonoid monomers on the signaling pathways of ovarian cancer， we aim to provide a theoretical basis for the research on the roles of flavonoid monomers in inhibiting the occurrence and development of ovarian cancer.