BACKGROUND: The sirtuin family is well recognized for its crucial involvement in various cellular processes. Nevertheless, studies on its role in the human endometrium are limited. This study aimed to explore the expression and localization of the sirtuin family in the human endometrium, focusing on sirtuin 3 (SIRT3) and its potential role in the oxidative imbalance of the endometrium in polycystic ovary syndrome (PCOS). METHODS: Endometrial specimens were collected from both patients with PCOS and controls undergoing hysteroscopy at the Center for Reproductive Medicine, Peking University Third Hospital, from July to August 2015 and used for cell culture. The protective effects of SIRT3 were investigated, and the mechanism of SIRT3 in improving endometrial receptivity of patients with PCOS was determined using various techniques, including cellular bioenergetic analysis, small interfering ribonucleic acid (siRNA) silencing, real-time quantitative polymerase chain reaction, Western blot, immunofluorescence, immunohistochemistry, and flow cytometry analysis. RESULTS: The sirtuin family was widely expressed in the human endometrium, with SIRT3 showing a significant increase in expression in patients with PCOS compared with controls ( P <0.05), as confirmed by protein and gene assays. Concurrently, endometrial antioxidant levels were elevated, while mitochondrial respiratory capacity was reduced, in patients with PCOS ( P <0.05). An endometrial oxidative stress (OS) model revealed that the downregulation of SIRT3 impaired the growth and proliferation status of endometrial cells and reduced their receptivity to day 4 mouse embryos. The results suggested that SIRT3 might be crucial in maintaining normal cellular state by regulating antioxidants, cell proliferation, and apoptosis, thereby contributing to enhanced endometrial receptivity. CONCLUSIONS Our findings proposed a significant role of SIRT3 in improving endometrial receptivity in patients with PCOS by alleviating OS and regulating the balance between cell proliferation and apoptosis. Therefore, SIRT3 could be a promising target for predicting and improving endometrial receptivity in this patient population.
Humans ; Female ; Polycystic Ovary Syndrome/metabolism* ; Endometrium/metabolism* ; Sirtuin 3/genetics* ; Oxidative Stress/genetics* ; Adult ; Animals ; Mice ; Apoptosis/physiology* ; Immunohistochemistry ; Cell Proliferation/physiology*

Objective:To analyze the echocardiographic and genetic characteristics of fetuses with common arterial trunk（CAT）.Methods:A retrospective analysis was conducted on 77 480 fetal echocardiograms examined at the Maternal-Fetal Medicine center in Fetal Heart Disease of Beijing Anzhen Hospital from November 2010 to November 2024.Among them，106 fetuses were initially diagnosed with CAT，and 95 cases were ultimately confirmed（0.1%，95/77 480）. The echocardiographic and genetic features of CAT fetuses were analyzed. According to the modified Van Praagh classification，CAT was divided into types A1-A4［with ventricular septal defect（VSD）］and B1-B4（without VSD）based on the origin of the pulmonary artery branches and the presence or absence of a VSD. Additionally，CAT was categorized into isolated and complex types based on the presence of associated intracardiac or extracardiac anomalies.Results:① Among the 95 confirmed CAT fetuses，type A accounted for 90.5%（86/95），and type B accounted for 9.5%（9/95）. All 9 type B CAT fetuses exhibited no overriding of the arterial trunk ， with 8 cases showing left ventricular hypoplasia accompanied by mitral atresia or absence.② Of the 95 CAT fetuses，14 were isolated（14.7%，14/95） ， and 81 were complex（85.3%，81/95）.The main associated intracardiac anomalies included：single ventricle（22 cases），complete atrioventricular septal defect（12 cases），anomalous pulmonary venous drainage（10 cases），right aortic arch with mirror-image branching（16 cases），and persistent left superior vena cava（14 cases）. ③ Genetic testing was performed in 31 fetuses，with 18 showing positive results，primarily 22q11.21 deletion syndrome（29.0%，9/31）. Conclusions:Apart from VSD，the most common intracardiac anomaly associated with CAT fetuses is single ventricle. Type B CAT without trunk overriding is often associated with left ventricular hypoplasia and mitral atresia or absence. The most frequent genetic abnormality in CAT fetuses is 22q11.21 deletion syndrome. Prenatal echocardiography should clarify the CAT subtype and associated anomalies，and genetic testing is strongly recommended for perinatal counseling and prognostic evaluation.

Objective To explore the relationship between the nutritional risk and the risk of frequent acute exacerbation of chronic obstructive pulmonary disease(COPD).Methods The patients with acute exac-erbation of COPD(AECOPD)hospitalized in the respiratory and critical care medicine department of the First Affiliated Hospital of Xiamen University were collected and divided into the frequent acute exacerbation risk group(FE)and non-frequent exacerbation risk group(NE).The nutritional risk was evaluated by the Nutri-tional Risk Screening Scale-2002(NRS-2002)(1-2 points as no nutritional risk,3-7 points as nutritional risk).The relationship between the two was analyzed by statistics and logistic regression.Results The FE group had longer hospital stay(P<0.01)and a higher proportion of hypertension(P<0.01).In terms of in-flammatory indicators,the neutrophil to albumin ratio(P<0.01)and platelet to lymphocyte ratio(P<0.05)in the FE group were significantly increased.In the aspect of nutritional status,the NRS-2002 score in the FE group showed a higher proportion of nutritional risk population(P<0.01),meanwhile the total protein(P<0.01)and albumin(P<0.05)levels were significantly decreased.After adjusting the confounding factors such as gender,hospitalization duration,inflammatory markers and history of underlying diseases,the full fac-tor logistic regression analysis revealed that the frequent acute exacerbation risk in COPD patients with nutri-tional risk was significantly higher that in the patients with no nutritional risk[odds ratio(OR)=2.948;95%confidence interval(95%CI):1.112-7.816;P<0.05].Conclusion The COPD patients with nutritional risk in NRS-2002 scores exhibit a significantly increased risk of frequent acute exacerbation compared to those without nutritional risk.

Objective:To analyze the echocardiographic and genetic characteristics of fetuses with common arterial trunk（CAT）.Methods:A retrospective analysis was conducted on 77 480 fetal echocardiograms examined at the Maternal-Fetal Medicine center in Fetal Heart Disease of Beijing Anzhen Hospital from November 2010 to November 2024.Among them，106 fetuses were initially diagnosed with CAT，and 95 cases were ultimately confirmed（0.1%，95/77 480）. The echocardiographic and genetic features of CAT fetuses were analyzed. According to the modified Van Praagh classification，CAT was divided into types A1-A4［with ventricular septal defect（VSD）］and B1-B4（without VSD）based on the origin of the pulmonary artery branches and the presence or absence of a VSD. Additionally，CAT was categorized into isolated and complex types based on the presence of associated intracardiac or extracardiac anomalies.Results:① Among the 95 confirmed CAT fetuses，type A accounted for 90.5%（86/95），and type B accounted for 9.5%（9/95）. All 9 type B CAT fetuses exhibited no overriding of the arterial trunk ， with 8 cases showing left ventricular hypoplasia accompanied by mitral atresia or absence.② Of the 95 CAT fetuses，14 were isolated（14.7%，14/95） ， and 81 were complex（85.3%，81/95）.The main associated intracardiac anomalies included：single ventricle（22 cases），complete atrioventricular septal defect（12 cases），anomalous pulmonary venous drainage（10 cases），right aortic arch with mirror-image branching（16 cases），and persistent left superior vena cava（14 cases）. ③ Genetic testing was performed in 31 fetuses，with 18 showing positive results，primarily 22q11.21 deletion syndrome（29.0%，9/31）. Conclusions:Apart from VSD，the most common intracardiac anomaly associated with CAT fetuses is single ventricle. Type B CAT without trunk overriding is often associated with left ventricular hypoplasia and mitral atresia or absence. The most frequent genetic abnormality in CAT fetuses is 22q11.21 deletion syndrome. Prenatal echocardiography should clarify the CAT subtype and associated anomalies，and genetic testing is strongly recommended for perinatal counseling and prognostic evaluation.

Atopic dermatitis (AD) is a chronic inflammatory skin condition. Natural products have gained traction in AD treatment due to their accessibility, low toxicity, and favorable pharmacological properties. However, their application is primarily constrained by poor solubility, instability, and limited permeability. The transdermal drug delivery system (TDDS) offers potential solutions for transdermal delivery, enhanced penetration, improved efficacy, and reduced toxicity of natural drugs, aligning with the requirements of modern AD treatment. This review examines the application of hydrogels, microneedles (MNs), liposomes, nanoemulsions, and other TDDS-carrying natural products in AD treatment, with a primary focus on their effects on penetration and accumulation in the skin. The aim is to provide valuable insights into the treatment of AD and other dermatological conditions.
Animals ; Humans ; Administration, Cutaneous ; Biological Products/pharmacokinetics* ; Dermatitis, Atopic/drug therapy* ; Drug Delivery Systems ; Hydrogels/chemistry* ; Skin/metabolism* ; Skin Absorption

Objective To analyze the correlation between inflammation,nutritional indicators and hy-poproteinemia in patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD).Meth-ods The clinical data of patients with AECOPD admitted to the Department of Respiratory and Critical Care Medicine of the First Affiliated Hospital of Xiamen University from January 2020 to September 2022 were ret-rospectively analyzed,and the patients were divided into the hypoproteinemia group(n=73)and the non-hy-poproteinemia group(n=141)according to whether the serum albumin(ALB)was lower than 35 g/L.The clinical data,inflammatory indicators and nutritional indicators of the two groups were compared,Spearman correlation analysis was performed,and binary logistic regression analysis was performed to analyze the influ-encing factors of patients with AECOPD complicated with hypoproteinemia.Results There were statistically significant differences in age,length of hospital stay,and body weight between the two groups(P＜0.05).There were no significant differences in gender,number of hospitalizations in the past 1 year,height,diabetes,hypertension and proportion of coronary heart disease(P＞0.05).Compared with the non-hypoproteinemia group,the hypoproteinemia group had longer hospital stays and higher levels of C-reactive protein,neutrophil/albumin ratio(NAR),neutrophil to lymphocyte ratio(NLR),platelet-lymphocyte ratio(PLR),and systemic immunoinflammatory index(SII).The prognostic nutritional index(PNI),body mass index(BMI),hemoglo-bin and total protein levels were lower,and the difference was statistically significant(P＜0.05).Body weight,BMI,hemoglobin,total protein,PNI and AECOPD patients with hypoproteinemia were negatively cor-related(P＜0.05),while age,length of hospital stay,C-reactive protein,NAR,NLR,PLR,SII and AECOPD patients with hypoproteinemia were positively correlated(P＜0.05).Binary logistic regression analysis showed that PNI,SII and NLR were the influencing factors of hypoproteinemia in AECOPD patients.Conclusion In clinical practice,attention should be paid to and timely correction of hypoproteinemia in pa-tients with AECOPD,improvement of inflammatory indicators and nutritional status of patients,and preven-tion of acute exacerbation.

OBJECTIVE: To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes. METHODS: Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed. RESULTS: The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously. CONCLUSION Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.
Humans ; Loeys-Dietz Syndrome/genetics* ; Receptor, Transforming Growth Factor-beta Type I/genetics* ; Receptor, Transforming Growth Factor-beta Type II/genetics* ; Transforming Growth Factor beta3 ; Face

Objective:To summarize the etiological mechanism, echocardiographic and clinical features of fetal cardiomyopathies (FCMs).Methods:According to the data of echocardiography in Maternal-Fetal Medicine Center in Fetal Heart Disease of Beijing Anzhen Hospital during 2015 January to 2020 December, 70 cases with FCMs were retrospectively reviewed, and the clinical, ultrasonic, pathological and clinical outcome data were collected. Whole exome sequencing and whole genome sequencing were used to identify the genetic changes.Results:Primary FCMs were diagnosed in 55 cases (78.6%, 55/70), including 39 fetuses with non-compaction of the ventricular myocardium (NVM), 10 with dilated cardiomyopathy (DCM), 5 with hypertrophic cardiomyopathy (HCM), and 1 with restricted cardiomyopathy (RCM). Secondary FCMs were diagnosed in 15 cases (21.4%, 15/70), including 7 fetuses with maternal anti-Ro/La antibodies (presenting with DCM), 4 with twin-twin transfusion syndrome (2 with DCM and 2 with HCM), 2 with fetal anemia (presenting with DCM), 1 with maternal diabetes (presenting with HCM) and 1 with chorioangioma of the placenta (presenting with DCM). In all cases, 9 cases were born, 3 cases died in perinatal period, and 58 pregnancies were terminated due to ineffective treatment or the decisions of pregnant women. Thirty cases with primary FCMs were performed with genetic tests, and 13 of them were identified with positive genetic changes related to FCMs, including 12 cases with NVM and 1 with HCM.Conclusions:Primary FCMs are more common than secondary FCMs in fetal period. The genetic disorders have a high proportion in fetal NVM. Fetal DCM and HCM have a large spectrum of intrinsic and extrinsic causes.

Objective:To analyze the clinical characteristics of pneumonia caused by Chlamydia psittaci (C. psitttaci). Methods:A retrospective analysis was performed on the clinical data of 13 consecutive patients with C. psitttaci pneumonia admitted to the First Affiliated Hospital of Xiamen University from November 2018 to February 2021. Results:All 13 cases had symptoms of fatigue and 6 cases had headache. At consultation, the ΔSequential Organ Failure Assessment (SOFA) scores of all patients were ≥2 points. According to the Pneumonia Severity Index (PSI) score, 2 patients were grade Ⅱ and the other 11 patients were grade Ⅳ or Ⅴ. Laboratory tests showed that C-reactive protein (CRP) and procalcitonin (PCT) levels were elevated in all patients; CRP≥100 mg/L was found in 11 cases and PCT≥0.5 ng/ml was found in 9 cases.There were 12 cases with respiratory failure and 12 cases with elevated transaminase. Chest CT scans showed multiple patchy exudative shadow, focal consolidation and air bronchial sign; and the lesions were mainly in the lower lungs (8 cases). C. psitttaci infections were confirmed by metagenomics next-generation sequencing (mNGS) and the patients′ conditions improved rapidly after timely adjustment of doxycycline based drug treatment and active organ support. The lesions were completely absorbed without residual fibrous cord changes and the prognosis was good. Conclusions:Pneumonia caused by C. psitttaci usually presents sepsis, and the disease progresses rapidly. The mNGS is of value for the early diagnosis of C. psitttaci pneumonia. Timely adjustment of antibiotics treatment after etiological diagnosis can lead to a good prognosis.

Objective:To evaluate the efficacy and safety of limited pars plana vitrectomy(LPPV), pressure-controlled phacoemulsification(PCP), intraocular lens implantation(IOL), and posterior capsulotomy (PC) in treatment of nanophthalmic glaucoma eyes which intraocular pressure(IOP) were still out of control after peripheral iridectomy.Methods:All 24 patients(29 eyes) with nanophthalmic glaucoma whose IOP failed to be reduced after peripheral iridectomy and needed LPPV plus PCP plus IOL plus PC were recruited from July 2017 to April 2021. The age of these patients was(44.6±11.0) years old. Preoperative and postoperative IOP, best corrected visual acuity(BCVA), anterior chamber depth(ACD) and number of glaucoma medications were recorded by chart review and compared by using paired t-test or Wilcoxon signed rank-sum test. P<0.05 was considered as statistical significant. IOP could be controlled in normal range(≥5 mmHg and≤21 mmHg), without both of disease progression and serious complications were regarded as the success criteria of the operation. Surgical success rate was evaluated. Surgery-associated complications were recorded. Results:The average follow-up time was(11.52±12.44) months. After the microsurgery, IOP decreased from(33.12±9.25) mmHg to(14.23±3.44) mmHg( P<0.01); The ACD increased from(1.23±0.46) mm to(2.86±0.62) mm, and the median number of glaucoma medications dropped from 3(3,4) to 3(0,3) at final follow-up visit( P<0.05). There were no significant differences in BCVA( P=0.196) and the degrees of angle closure(AC) ( P=0.478) before and after operation. The total surgical success rate was 86.2%(25/29) at the final follow-up visit. Two eyes suffered from local choroidal detachment which recovered within 2 weeks with medical treatment. Conclusion:LPPV plus PCP plus IOL plus PC is a safe and effective novel surgical procedure in the treatment of nanophthalmic glaucoma patients with uncontrolled IOP after peripheral iridectomy. It could significantly decrease IOP, increase the depth of ACD, reduce the number of glaucoma medications and maintain BCVA. It can be considered as a first choice for the surgical management for patients with a such condition.