The clinical data of a case of Weave syndrome admitted in the Department of Endocrinology, Children′s Hospital of Nanjing Medical University in October 2018 were retrospectively analyzed.The patient was a 9 years and 2 months old girl, who was hospitalized because of " growing too fast for 9 years" . After birth, the child is found to grow fast and have mental retardation, slurred speech, a blurred vision, a long face, a protruding forehead, ocular hypertelorism, epicanthus, nasal bridge pit, finger pads on both hands and feet, uncoordinated gaits, and intoeingpigeon toes.A novel heterozygous c. 1720A>G (p.K574E) mutation was detected in the exon 15 of the EZH2 gene of the patient.This mutation has not been reported at home and overseas.Sanger sequencing revealed that the patient′s parents did not carry the mutation.The disease is an autosomal dominant genetic disorder, and the parents and sibling of the patient have no corresponding symptoms, so it is inferred that the mutation is spontaneous.Based on the peculiarity of the face, clinical manifestations and the results of molecular genetics, the child was diagnosed as Weaver syndrome.

Objective To explore the associations of depressive symptoms with functional status and frailty in elderly outpatients.Methods A total of 297 geriatric outpatients(aged 65 years and over) from Zhejiang Hospital were recruited in the cross-sectional study from January 2014 to December 2015.We gathered general information,and evaluated depressive symptoms by Geriatric Depression Scale-15 (GDS-15),cognitive function by mini-mental state examination(M MSE),frailty by clinical frailty scale(CFS),activities of daily living (ADL)by Barthel index,instrumental activities of daily living (IADL),balance,POMA and gait by Tinetti-performance oriented mobility assessment (Tinetti-POMA),grip strength and 4m gait speed by 4-meter walk gait speed test.According to the GDS-15 scores,297 geriatric outpatients were divided into a depression symptom group(n=35,GDS-15 ≥6)and a nomdepressive symptom group(n=262,GDS-15＜6).The frailty and functional status were compared between two groups by SPSS 23.0.Results As compared with non-depressive symptoms,the depressive symptoms group had higher clinical frailty scale(CFS),lower body mass index(BMI),lower cognitive function and poorer grip strength and balance(all P＜0.05).There were significantly negative correlations of Geriatric Depression Scale-15 (GDS-15) with ADL,IADL,gait,balance,POMA and grip strength(r=-0.165、-0.154、-0.216、-0.291、-0.305、-0.314,All P＜ 0.05),while there were significantly positive correlations with CFS score,gait speed(r=0.256、0.198,both P＜0.05).The more severe the frailty was,the higher the risk of depressive symptoms was(OR=3.650,95％ CI 1.611-8.271).Conclusions The cognitive and physical functions in the elderly with depression symptoms are poorer as compared with the elderly without depression symptoms.Elderly outpatients with more severe frailty have a higher risk for depressive symptoms.

BACKGROUND:Poly(butylene succinate) (PBS) and polypropylenecarbonate (PPC) are new medical materials developed in recent years, characterized as good biocompatibility, biodegradability and the low price. OBJECTIVE:To prepare the PBS/PPC biofilm by electrostatic spinning method and evaluate its physical and chemical properties, degradation performance and effect on cel proliferationin vitro. METHODS:The PBS/PPC biofilm was prepared using electrostatic spinning method: 0.9 g PBS and 0.9 g PPC were dissolved in 10 mL of trichloromethane at room temperature and stirred magneticaly until they were fulydissolved. Then, the spinning solution was added into a spinning tube with a distance of about 15 cm and at a voltage of 18 kV. The surface morphology was observed by scanning electron microscopy. The intensity, contact angle and water absorption, pH value and weight loss in the process ofin vitro degradation were measured. MG63 cels were co-cultured with the biofilm for 7 days and cel proliferation was detected by cel counting kit-8. RESULTS AND CONCLUSION: The PBS/PPC biofilm showed a porous structure with interconnected pores. The fiber diameter was about 0.88 μm, the average aperture was about 5.68 μm, the porosity was 78.3%, the fracture intensity was 2.31 MPa, the elongation rate at break was 23.48%, the average value of contact angle was 87°, and the water absorption rate was 68.54%. During the biofilm degradation, the pH value decreased gradualy andreduced to 6.76 at 12 weeks; meanwhile, the biofilm degraded equaly and gradualy, and the weight loss rate was 6.04% at the end of the 12th week. The results of cel counting kit-8 showed that the PBS/PPC biofilm could promote cel proliferation. Overal, the PBS/PPC biofilm has good physical and chemical properties, good space-making feature, wettability and degradability, which can provide sufficient time for bone tissue regeneration.

Objective: To investigate the mechanism of moxibustion in the treatment of diarrhea-predominant irritable bowel syndrome (IBS-D), by observing the effects of moxibustion at Tianshu (ST25) and Shangjuxu (ST37) on microRNA-133b (miRNA-133b), pituitary homeobox family factor 3 (Pitx3)/tyrosine hydroxylase (TH), and neurotransmitters in the brain tissue of IBS-D rats. Methods: Healthy Sprague-Dawley rats were randomly divided into a normal group, a model group, a moxibustion group, and a Western medicine group, with 12 rats in each group. Except for the normal group, the IBS-D rat model was established by mother-offspring separation and acetic acid enema combined with restraint stress stimulation in all the other groups. No intervention was performed in the normal and model groups. Mild moxibustion was applied to both Tianshu (ST25) and Shangjuxu (ST37) in the moxibustion group. Rifaximin was given by gavage in the Western medicine group. The physical status of rats in each group was observed at different periods. After the intervention, hematoxylin- eosin staining was performed to observe the histopathological morphology of rat colon; enzyme-linked immunosorbent assay was used to measure the levels of dopamine (DA), noradrenaline (NE), and 5-hydroxytryptamine (5-HT) in plasma, colon, and midbrain tissue of rats; the relative expression levels of miRNA-133b, Pitx3 mRNA, and TH mRNA in the midbrain tissue were measured by real-time fluorescence quantitative polymerase chain reaction, and the relative expression levels of Pitx3 and TH proteins in the midbrain tissue were measured by Western blotting and immunofluorescence. Results: The body weights of rats among groups and at different time points were statistically different (P<0.01). The body weight of the normal group was higher than that of the other groups over time (P<0.01). After modeling, the minimum volume threshold of abdominal withdrawal reflex (AWR) was significantly lower (P<0.01) and the loose stool rate was significantly higher (P<0.01) in the model, moxibustion, and Western medicine groups compared with the normal group; the miRNA-133b expression in the midbrain tissue was significantly lower (P<0.01), the expression levels of Pitx3 and TH in the midbrain tissue were significantly higher (P<0.01), and the levels of DA, NE, and 5-HT in plasma, colon and midbrain tissue were significantly higher (P<0.01). After the intervention, the minimum volume threshold of AWR was significantly higher (P<0.01), the loose stool rate was significantly lower (P<0.01), the miRNA-133b expression was significantly increased (P<0.01 or P<0.05) and the expression levels of Pitx3 and TH were significantly decreased (P<0.01) in the midbrain tissue, the levels of DA, NE, and 5-HT in plasma, colon, and midbrain tissue were significantly reduced (P<0.01) in the moxibustion and Western medicine groups compared with the model group; the levels of 5-HT in the colon and midbrain tissue of the moxibustion group were significantly lower than those in the Western medicine group (P<0.05), and there was no statistical difference compared with the remaining groups (P>0.05). Linear correlation analysis showed that miRNA-133b was negatively correlated with Pitx3 (r<0, P<0.01); Pitx3 with TH, TH with DA, and NE with 5-HT were positively correlated (r>0, P<0.01).Conclusion: Moxibustion at Tianshu (ST25) and Shangjuxu (ST37) improves diarrhea symptoms and visceral hypersensitivity in IBS-D rats. The mechanism may be related to up-regulating miRNA-133b, inhibiting Pitx3/TH, and reducing neurotransmitter expression levels in the midbrain tissue.

Objective: To explore the best indication for veneers and to improve the repair success rate by investigating the effects of different types of dentin exposure on the shear bond strength of cast porcelain veneers with two new veneer bonding systems. Methods: Bonding interfaces with 0%, 25%, 50%, 75% and 100% dentin exposure were designed and fabricated. The bonding interfaces were divided into groups A, B, C, D and E. Sixty 4-mm x 4-mm x 2-mm (length x width x thickness) ceramic specimens were bonded by using two bonding systems, The VN-A, VN-B, VN-C, VN-D and VN-E groups were bonded with Variolink bonding system, and the PF-A, PF-B, PF-C, PF-D and PF-E were bonded with Panavia F bonding system (six specimens per group). The bonded specimens were stored in a distilled water bath at (37 + 1)℃ for 24 hours. The fracture load was tested by a universal testing machine, and the fracture type was observed by scanning electron microscopy. Results : The VN-A (25.14 ± 3.40 MPa), VN-B (22.54 ± 4.48 MPa), VN-C (19.59 ± 2.21 MPa), PF-A (20.61 ± 2.42 MPa), PF-B (18.08 ± 4.11 MPa), PF-C (17.06 ± 2.29 MPa) groups’ shear bond strengths were above 17 MPa. The VN-A group had the highest shear bond strength value. There was no statistically significant difference in bond strength between the VN-A group and the VN-B and VN-C groups (P > 0.05) or the PF-A and PF-B groups (P > 0.05); however, the differences between VN-A and the VN-D and VN-E groups (P < 0.05) and between PF-A and the PF-C and PF-D and PF-E groups (P < 0.05) were statistically significant. The differences between the VN-A group and PF-A group (P < 0.05) were statistically significant. The fracture modes of the VN-A, PF-A, VN-B, PF-B, and VN-C groups mainly included resin cement cohesive failure and mixed failure; the VN-D, VN-E, PF-C, PF-D and PF-E groups were dominated by interface failure and mixed failure. Conclusion When the dentin exposure is greater than 50%, the shear bond strength value of the veneer was significantly affected. To obtain a better clinical effect, the dentin exposure rate should be less than 25%.

Objective To investigate the correlation between the frailty and nutritional status of the elderly hospitalized patients.Methods A total of 244 hospitalized patients were enrolled in this investigation. By using comprehensive geriatric assessment (CGA),patients answered these questions together with experts (questionnaire assessment by professional instructions). Researchers input the result into computer at same time. Results Compared with normal patients,frailty patients were older (P<0.001),and had lower ability to take care of themselves (P<0.001),in other words,they had more demands from their families and carers in terms of medical care (P<0.01). In addition, frailty patients had higher risks of having depressive symptom (P=0.016),cognitive impairment (P<0.001), living function disability (P<0.001),as well as malnutrition (P<0.001). Regression analysis result showed a negative correlation between frailty and nutrition (P=0.005).Conclusions Malnutrition is closely related to frailty,and malnutrition patients and patients with risks of malnutrition were easily to acquire frailty.

Objective To investigate the detection rate of motoric cognitive risk syndrome (MCR)and explore the possible risk factors.Methods A total of 429 elderly patients from geriatric department of Zhejiang Hospital from October 2014 to September 2018 were recruited in the crosssectional study.General information and functional assessment including fall history,self-reported visual impairment and hearing impairment,depressive symptom,cognitive function and gait speed were collected.Patients with MCR were screened out according to the MCR diagnostic criteria.Multiple logistic regression analysis was used to analyze the associated risk factors.Results Seventeen patients(4.0％)met the MCR diagnostic criteria.The proportions of obesity,polypharmacy,cerebral vascular diseases,self-reported hearing impairment,depressive symptoms and slow gait were higher in MCR patients than in non-MCR patients(P＜0.05).Compared with non-MCR patients,MCR patients had lower mini mental state examination (MMSE) scores (P ＜ 0.01).After adjusting for associated confounding factors,multiple logistic regression analysis showed obesity (OR =3.74,95 ％ CI:1.14-12.23,P ＜ 0.05) and depressive symptoms (OR =5.79,95％ CI:1.76-19.06,P ＜ 0.01) were risk factors for MCR.Conclusions MCR is not uncommon in elderly patients.Obesity and depressive symptoms are closely associated with an increased risk of MCR.

Objective:To assess the value of cerebral small vessel disease (CSVD) burden in predicting prognosis in acute ischemic stroke (AIS) patients with anterior circulation large vessel occlusion (LVO) after endovascular therapy (EVT).Methods:The study was a cross-sectional study. A total of 242 patients with AIS due to anterior circulation LVO received EVT in the First Affiliated Hospital of Nanjing Medical University from February 2018 to September 2022. The clinical and imaging data of all patients were analyzed retrospectively. On follow-up MRI within 7 days after EVT, CSVD features [white matter hyperintensity (WMH), lacune, perivascular space, cerebral microbleed, cerebral atrophy] and CSVD burden score (0-5) was evaluated. Modified Rankin scale (mRS) score at 90 days after EVT was assessed. Patients were categorized into a mild burden group (0-1 points) and a moderate-severe burden group (2-5 points) based on CSVD burden score. Meanwhile, patients were categorized into a good prognosis group (0-2 points) and a bad prognosis group (3-6 points) based on mRS score at 90 days after EVT. Mann-Whitney U test and χ2 test were used to compare the difference of clinical and imaging indexes between the 2 groups, and variables with P<0.1 in the univariate analysis were included in the multifactorial logistic regression to screen for independent factors to predict the prognosis. Results:There were 169 patients in the good prognosis group and 73 patients in the bad prognosis group out of 242 patients. Compared with the good prognosis group, age, incidence of hyperlipidemia, baseline National Institutes of Health Stroke Scale (NIHSS) scores, incidence of hemorrhagic conversion, CSVD burden scores, incidence of periventricular WMH scores of 3 and/or deep WMH scores≥2, and incidence of moderate-severe cerebral atrophy of patients in the bad prognosis group were higher, and the incidence of complete recanalization was lower (all P<0.05). Multivariate analysis showed hyperlipemia ( OR=8.438, 95% CI 1.691-42.119, P=0.009), baseline NIHSS score ( OR=1.103, 95% CI 1.047-1.162, P<0.001), complete recanalization ( OR=0.131, 95% CI 0.038-0.454, P=0.001) and hemorrhage transformation ( OR=1.952, 95% CI 1.031-3.697, P=0.040) were independent factors for the prognosis of EVT in patients with LVO AIS. There were 157 cases in the mild burden group and 85 cases in the moderate-severe burden group. The 90-day mRS score was higher in the moderate-severe burden group compared with the mild burden group ( Z=-2.24, P=0.025). Conclusion:CSVD burden has some clinical implications in predicting the prognosis of EVT in patients with anterior circulation LVO AIS.

Adipose progenitor cells(APCs) represent a prominent stromal cellular component of adipose tissue and are now identified as highly heterogenous populations. However, the role of APCs in regulating systemic metabolism remains unknown. Using single cell RNA-sequencing, we investigated the role of the APC subpopulations in regulating development of type 2 diabetes. CD9 + CD55 low APCs are the novel subset identified in this study, which is significantly increased in type 2 diabetic patients. Transplantation of these cells from type 2 diabetic patients into adipose tissue caused glycemic disturbance in mice. Depletion of pathogenic APCs improved obesity-related glycemic disturbance. Collectively, our data provide deeper insights into human APC functionality and highlights APCs as a potential therapeutic target to combat type 2 diabetes. This study has been published in Nature Communications, 2024, 15(1): 4827.

The clinical manifestations and examination results of a case of Creutzfeldt-Jakob disease (CJD) admitted to the Department of Neurology of Peking Union Medical College Hospital,Chinese Academy of Medical Sciences in August 2020 were analyzed, and a comprehensive neuropsychological assessment and assessment of apraxia were conducted. The neuropsychological characteristics of apraxia in CJD patient and the progress in the research and evaluation of apraxia were reviewed. The patient was a 65-year-old male with insidious onset and progressive symptoms, whose clinical manifestations were apraxia, rapidly progressing dementia, and extrapyramidal symptoms. The magnetic resonance imaging showed hyper-intense signal in diffusion weighted imaging in bilateral cerebral hemispheres, and 14-3-3 protein in cerebrospinal fluid was positive, which were consistent with the probable CJD diagnostic criteria. The patient exhibited prominent signs and symptoms of ideomotor apraxia. It has been reported in the literature that apraxia can also be the main neuropsychological manifestation of CJD. It is necessary to pay attention to the standard evaluation and timely identification of apraxia in clinical diagnosis.