Objective To analyze the efficacy and adverse reactions of donepezil in the treatment of patients with a continuous disease spectrum of Alzheimer's disease(AD)with pharmacogenomics.Methods Seventy-two patients who took donepezil therapy at the time of initial molecular pa-thology diagnosis of AD continuous disease spectrum in Chinese PLA General Hospital from Jan-uary 2022 to January 2023 were recruited.Cells from the oral buccal mucosa were collected,and MassARRAY nucleic acid mass spectrometry was applied to detect the genotypes of CYP2D6,the gene encoding cytochrome P450 2D6 enzyme,and CHAT,the gene encoding acetylcholine trans-ferase.After 9 months of follow-up,drug efficacy was indirectly determined by neurological func-tion scales,caregiver evaluations,and drug prescribing behaviors,and thus,the 50 patients on donepezil alone were divide into effective group(n=28)and ineffective group(n=22).Seventy-two patients were divided into adverse reaction group(n=12)and no adverse reaction group(n=60).Multivariate logistic regression analysis was used to analyze the correlation between donepezil efficacy and pharmacogenomics.Results The frequencies of CHAT rs3793790 locus carrying G allele and rs2177370 locus carrying A allele were significantly higher in the effective group than the ineffective group(35.71％vs 9.09％,P=0.029;42.86％vs 9.09％,P=0.008).Multivariate lo-gistic regression analysis showed that donepezil was more effective in those who carrying rs3793790 G allele and/or rs2177370 A allele in the CHAT gene than those who carrying neither of the alleles(95％CI:1.20-34.47,P=0.030).There were no statistical differences in the CYP2D6 gene-adjusted activity score and whether or not carrying*10 between the patients with and without adverse reactions(P＞0.0 5).Conclusion In patients with a continuous spectrum of AD,donepezil efficacy is associated with CHAT gene polymorphisms,but there is no correlation between donepezil adverse reactions and CYP2D6 genotype.

Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.

Very long chain polyunsaturated fatty acids (VLC-PUFAs) are unique fatty acids in tissues of mammals such as retina and testis, and the key enzyme of its biosynthesis is very long chain fatty acid elongase 4 (Elovl4). Development of an animal model of tissue-specific knockout of Elovl4 gene is conducive to the in-depth study of the biological function of VLC-PUFAs. Therefore, we constructed Stra8-Cre mice and Elovl4 floxed mice based on Cre/loxP system, and obtained the (Elovl4[flox/+], Stra8-Cre) heterozygous knockout mice by hybridization. Subsequently, female mice were selected to cross with male mice with homozygous Elovl4[flox/flox] to gain homozygous mice (Elovl4[flox/flox], Stra8-Cre) through genotype identification and screening. RT-PCR, qRT-PCR, Western blotting, immunohistochemistry and immunofluorescence techniques were used to detect the knock-out efficiency of Elovl4 in testis. The expression of Elovl4 in testis of both heterozygous and homozygous knockout mice were significantly down-regulated at mRNA and protein levels, but were not affected in other tissues. In summary, we constructed a mouse model with specific knockout of Elovl4 gene in testis, which provides a reliable animal model for studying the effect of VLC-PUFAs on the reproductive function of male mice and the underpinning molecular mechanisms.
Animals ; Disease Models, Animal ; Eye Proteins/metabolism* ; Female ; Gene Knockout Techniques ; Integrases ; Male ; Mammals/metabolism* ; Membrane Proteins/metabolism* ; Mice ; Mice, Knockout ; Testis/metabolism*

The clinical data of a case of pulmonary arterial hypertension (PAH) caused by mutation of filamin A( FLNA) in the congenital heart disease center of Wuhan Asian Heart Hospital in September 2017 were subject to retrospective analysis.A 2-year-old girl had clinical characteristics of special face, backward growth and development, repeated pulmonary infections, repeated heart failure, congenital heart disease, and PAH.Genetic detection: FLNA mutation (exon34: c.5417-1G> A), which was a new pathogenic mutation.There were few reports of PAH caused by FLNA mutations.In this study, a new case of pulmonary hypertension caused by FLNA c. 5417-1G>A compound heterozygous shearing mutations was found, which enriched the FLNA mutation spectrum and prompted genetic detection was an important approach to detect the cause of PAH.

With the deepening of the reform of management system of higher medical education in China and the comprehensive advancement of quality education , the teaching laboratories in medical colleges have evolved from traditional laboratories serving the needs of a single discipline to medical laboratory centers classified by subject groups and their corresponding functions. Applying the concept of collaborative innovation, practical explorations in such aspects as building a "big experimental teaching center", establishing a new system of experimental teaching courses, exploring a new model of innovative practical education, and building an excellent teacher team engaging in experimental teaching by means of synergic work have been made by the Army Medical University in its construction of an experimental teaching center for basic medical sciences, which also provides practical reference for the construction of experimental teaching centers in the future.

Objective? To analyze the application effect of logistics robot in the distribution management of consumables and materials in Operating Room and to explore its application value. Methods? From December 1st to 11th in 2018, the intraoperative distribution of consumables and materials in Operating Room of Sun Yat-sen Unviersity Cancer Hospital was divided into the robot distribution group (logistic robot was used in distribution) and manual distribution group(manual power was used in distribution) based on rooms. The service time, number of service of the logistic robots and manual delivery were recorded and the incidence of logistic robots' collision was counted. Every delivery time, the error rate of the delivered goods, number and time of operation suspension for waiting for the goods in both of the two groups were counted separately and the differences between the two groups in delivery time, delivery error rate, number of times and time of operation suspension for goods waiting were compared, and the satisfaction of medical staff to the distribution of the two groups were compared. Results? Robot distribution group delivered 1 295 trips in total, with an average of 3.8 rooms per trip, and no collisions happened. In the robot distribution group, time required for each delivery(72.62±7.8) s, the error rate of delivery(0.13%), number of waiting during operation(93 times) and waiting time during operation (25.58±3.8)s were all lower than those in the manual distribution group [(160.50±20.2)s, 0.76%, 157 times, (43.75±6.8)s], with statistically significant differences(P＜ 0.01). The satisfaction of medical staff in the robot distribution group was higher than that in the manual distribution group, and the difference was statistically significant (χ2=7.103,P=0.029). Conclusions? The application of logistic robots to distribute consumables and materials in the Operating Room can partly reduce the workload of the scout nurses, reduce the waiting time in the operation, achieve swiftness and accuracy, realize intelligent management of high-value consumables, and improve the working efficiency and management quality in the Operation Room.

Objective To investigate the effect of metformin combined with acupoint therapy with low frequency impulse stimulation on repairing diabetic neuropathy of patients with diabetic foot.Methods Totally 150 diabetic foot patients with neuropathy were randomly divided into observation group (n =75) and control group (n =75).The therapeutic effect,nerve conduction velocity,fasting blood glucose,postprandial 2 h blood glucose,glycosylated hemoglobin and adverse reactions were compared between the two groups.Results The total effective rate of the observation group was 92％,which was significantly higher than 76％ of the control group (P ＜0.05).The SCV and MCV of the tibial nerve and peroneal nerve increased significantly after treatment in all the patients (P ＜0.05),and the SCV and MCV of the tibial nerve and peroneal nerve in the observation group were significantly higher than those in the control group (P ＜ 0.05).After treatment,the levels of HbA1 C,FBG and 2 hPBG decreased significantly when compared with those before treatment (P ＜ 0.05),and the levels of HbA1 C,FBG and 2 hPBG in the observation group were significantly lower than those in the control group (P ＜ 0.05).The total incidence rate of complications in the observation group was 8％,which was significantly lower than 20％ in the control group (P ＜ 0.05).Conclusion Metformin combined with acupoint therapy with low frequency impulse stimulation can effectively improve the symptoms of neuropathy in patients with diabetic foot.

Objective To investigate the effect of metformin combined with acupoint therapy with low frequency impulse stimulation on repairing diabetic neuropathy of patients with diabetic foot.Methods Totally 150 diabetic foot patients with neuropathy were randomly divided into observation group (n =75) and control group (n =75).The therapeutic effect,nerve conduction velocity,fasting blood glucose,postprandial 2 h blood glucose,glycosylated hemoglobin and adverse reactions were compared between the two groups.Results The total effective rate of the observation group was 92％,which was significantly higher than 76％ of the control group (P ＜0.05).The SCV and MCV of the tibial nerve and peroneal nerve increased significantly after treatment in all the patients (P ＜0.05),and the SCV and MCV of the tibial nerve and peroneal nerve in the observation group were significantly higher than those in the control group (P ＜ 0.05).After treatment,the levels of HbA1 C,FBG and 2 hPBG decreased significantly when compared with those before treatment (P ＜ 0.05),and the levels of HbA1 C,FBG and 2 hPBG in the observation group were significantly lower than those in the control group (P ＜ 0.05).The total incidence rate of complications in the observation group was 8％,which was significantly lower than 20％ in the control group (P ＜ 0.05).Conclusion Metformin combined with acupoint therapy with low frequency impulse stimulation can effectively improve the symptoms of neuropathy in patients with diabetic foot.

Background: Stage at diagnosis and molecular subtype are important clinical factors associated with breast cancer patient survival. However, subgroup survival data from a large study sample are limited in China. To estimate the survival differences among patients with different stages and various subtypes of breast cancer, we conducted a hospital-based multi-center study on breast cancer in Beijing, China. Methods: All resident patients diagnosed with primary, invasive breast cancer between January 1, 2006 and Decem-ber 31, 2010 from four selected hospitals in Beijing were included and followed up until December 31, 2015. Hospital-based data of stage at diagnosis, hormone receptor status, and selected clinical characteristics, including body mass index (BMI), menopausal status, histological grade, and histological type, were collected from the medical records of the study subjects. Overall survival (OS) and cancer-specific survival (CSS) were estimated. Cox proportional hazards models were employed to evaluate the associations of stage at diagnosis and molecular subtype with patient survival. Results: The 5-year OS and CSS rates for all patients were 89.4％ and 90.3％. Survival varied by stage and molecu-lar subtype. The 5-year OS rates for patients with stage Ⅰ, Ⅱ, Ⅲ, and IV diseases were 96.5％, 91.6％, 74.8％, and 40.7％, respectively, and the corresponding estimates of 5-year CSS rates were 97.1％, 92.6％, 75.6％, and 42.7％, respectively. The 5-year OS rates for patients with luminal A, luminal B, HER2, and triple-negative subtypes of breast cancer were 92.6％, 88.4％, 83.6％, and 82.9％, respectively, and the corresponding estimates of 5-year CSS rates were 93.2％, 89.1％, 85.4％, and 83.5％, respectively. Multivariate analysis showed that stage at diagnosis and molecular subtype were important prognostic factors for breast cancer. Conclusions: Survival of breast cancer patients varied significantly by stage and molecular subtype. Cancer screen-ing is encouraged for the early detection and early diagnosis of breast cancer. More advanced therapies and health care policies are needed on HER2 and triple-negative subtypes.

Objective To investigate the serum levels of uric acid (UA) in bipolar disorder patients and their clini?cal significance. Methods Serum levels of UA was measured in 126 bipolar disorder patients including 77 mania pa?tients and 49 depression patients, 69 first-episode schizophrenic patients and 126 healthy controls (control group). Bipo?lar disorder patients was assessed by using the Young Mania Rating Scale (YMRS) and the Hamilton Depression Scale (HAMD). Results The serum UA levels were significantly higher in bipolar group [(349.34 ± 107.21) μmol/L] than in schizophrenic group [(319.71±84.48)μmol/L] and in control group [(280.94±71.90)μmol/L] (P<0.01). There were signifi?cant differences in serum UA levels between manic episode and depressive episode [(366.45 ± 104.01) μmol/L vs. (322.45±107.69)μmol/L]. The serum UA levels were higher in both manic episode and depressive episode groups than in control group (P<0.01). The serum UA levels was not significantly different between patients with and without medication (P>0.05). Correlation analysis indicated that the correlation of serum UA levels with YMRS scores and HAMD scores was not significant in bipolar disorder patients (P>0.05). Conclusions Patients with bipolar disorder has elevated serum uric acid levels which may be a biomarkers of bipolar disorder.