Analysis of genetic polymorphisms and a novel tri-allelic cloning sequence for the D13S317 locus among an ethnic Han Chinese population / 中华医学遗传学杂志

OBJECTIVE@#To study the genetic polymorphisms of short-tandem repeats (STR) for the D13S317 locus among an ethnic Han Chinese population and verify a novel tri-allelic pattern identified for the locus.@*METHODS@#A total of 378 paternity test cases from Guangdong Forensic Authentication Institute from October 17, 2017 to December 28, 2017 were selected as the study subjects. A GlobalFilerTM Express kit was used for the STR genotyping. Samples suspected for having a novel tri-allelic pattern were verified with a PowerPlex 21 kit. Potential variant of the primer-binding region and flanking sequences underlying the tri-allelic pattern was excluded by molecular cloning and sequencing.@*RESULTS@#Six alleles were detected for the D13S317 locus, with the characteristic distribution frequencies being 8 (29.1%), 9 (13.1%), 10 (15.21%), 11 (24.21%), 12 (13.89%) and 13 (3.44%), respectively. In one of the families, the D13S317 locus of the proband was suspected to harbor a triband allele (8, 9, 10). A re-test has confirmed the result of initial test. Molecular cloning and sequencing analysis of the D13S317 locus in the proband and his daughter has failed to find allelic variants in the primer-binding region and flanking sequence, which has confirmed the novel tri-allelic pattern for the locus.@*CONCLUSION@#A novel type 2 tri-allelic pattern (8, 9, 10) at the D13S317 locus has been identified among the ethnic Han Chinese population. The pattern has not been transmitted to the female offspring, and has been included in the international STRBase database for the first time.

Ameliorative effect and mechanism of Sanwei ganlu on hepatic fibrosis in rats / 中国药房

OBJECTIVE To investigate the ameliorative effects and mechanism of Sanwei ganlu on hepatic fibrosis in rats. METHODS The rats were randomly divided into normal group， model group， silibinin group （positive control， 50 mg/kg）， and Sanwei ganlu low-dose， medium-dose， and high-dose groups （80， 250， 800 mg/kg）. Except for normal group， hepatic fibrosis rat models were established by intraperitoneal injection of CCl4 in the other groups of rats. Starting from the 6th week of modeling administration， they were given normal saline or corresponding drugs intragastrically at the same time. At the end of the ninth-week experiment， liver and spleen indexes of rats were calculated； the pathological structure and fibrosis changes of liver tissue were observed by HE， Masson and Sirus Red staining. The contents of alanine transaminase （ALT）， aspartate transaminase （AST）， procollagen type Ⅲ （PC Ⅲ）， collagen type Ⅳ （COL-Ⅳ）， interleukin-6 （IL-6）， tumor necrosis factor-α （TNF-α） and IL-1β in serum， and hyaluronic acid （HA） and laminin （LN） in liver tissue were all detected. RESULTS Compared with the model group， the liver injury and collagen fiber deposition of rats were improved to different extents in Sanwei ganlu groups and silibinin group； the contents of ALT， AST， PC Ⅲ， COL-Ⅳ， IL-6， TNF-α and IL-1β in serum as well as the contents of HA and LN in liver tissue significantly decreased （P＜0.05 or P＜0.01）. CONCLUSIONS Sanwei ganlu can alleviate the progression of hepatic fibrosis in rats， possibly by inhibiting the synthesis of collagen fiber， reducing transaminase content， down-regulating the levels of HA， LN， PC Ⅲ and COL-Ⅳ， and reducing the inflammatory response.

Antitumor Effect of Metformin on Ovarian Cancer Cells / 肿瘤防治研究

Objective To explore the antitumor effects of metformin on ovarian cancer cells in vitro, particularly on tumor cell proliferation, cell cycle, apoptosis, migration, and possible mechanism. Methods Ovarian cancer cell lines (A2780, CAOV3, and SKOV3) were treated with different concentrations of metformin. Their proliferation was explored using the MTT and clone formation assays, cell migration was examined using the scratch and Transwell assays, and cell cycle and apoptosis were examined using flow cytometry. In addition, metformin’s effects on the phosphorylation of AMPK and mTOR and the expression of CXCR4 and Wnt/β-catenin protein was measured by Western blot. Results The survival rates of ovarian cancer cells decreased significantly with increasing metformin concentration and metformin treatment time. The IC50 values of metformin at 48 h for A2780, CAOV3, and SKOV3 cells were 16.36, 36.65, and 43.44 mmol/L, respectively. Compared with the control group, the clone formation ability and cell migration ability of ovarian cancer cells were significantly inhibited by metformin treatment and cell cycle arrested at the G0/G1 phase, and the apoptosis rate increased. As metformin concentration increased, the expression of phosphorylated AMPK protein gradually increased, and the expression levels of phosphorylated mTOR, CXCR4, Dvl3, β-catenin, cyclin D1, and CDK1 decreased. Conclusion Metformin exerts an antitumor effect on ovarian cancer cells, which is related to the activation of AMPK to inhibit CXCR4-mediated Wnt/β-catenin signaling pathway.

Research progress in systemic lupus erythematosus from 2021 to 2022 / 中国当代儿科杂志

Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organ systems, presenting a complex and diverse clinical manifestation. The heterogeneous treatment response and prognosis of SLE pose significant challenges to its diagnosis, classification, and homogeneous treatment. The emergence of new technologies and fields, such as synthetic biology, genomics, and proteomics, has contributed to a deeper exploration of the pathogenesis and biomarkers of SLE, facilitating precision diagnosis and treatment. This review summarizes the latest research data and achievements in SLE for the years 2021-2022, providing an overview and summary of relevant studies conducted in the past two years.

Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic / 亚洲男科学杂志(英文版)

Genetic risk factors have been shown to contribute to the development of sexual dysfunction. However, the role of methylenetetrahydrofolate reductase (MTHFR) gene variants in the risk of erectile dysfunction (ED) remains unclear. In this study, we recruited 1254 participants who underwent ED assessed by the International Index of Erectile Function-5. The MTHFR c.677C>T variant was also measured by fluorescence polymerase chain reaction (PCR). No significant difference in the genotypic frequency of the MTHFR C677T polymorphism (CC, CT, and TT) was observed between men from the ED and non-ED groups. In addition, on binary logistic regression analysis, both crude and adjusted models showed that the risk of ED was not significantly associated with the C677T polymorphism. Interestingly, a significantly higher frequency of the 677TT polymorphism was found in severe and moderate ED (P = 0.02). The positive correlation between the MTHFR 677TT polymorphism and severe ED was confirmed by logistic regression analysis, even after adjusting for potential confounders (odds ratio [OR] = 2.46, 95% confidence interval [CI]: 1.15-5.50, P = 0.02). These findings suggest a positive correlation between the MTHFR 677TT polymorphism and the risk of severe ED. Identification of MTHFR gene polymorphisms may provide complementary information for ED patients during routine clinical diagnosis.

Chemical constituents and their α-glucosidase inhibitory activities of seeds of Moringa oleifera / 中国中药杂志

The chemical constituents of the seeds of Moringa oleifera were isolated and purified by using Sephadex LH-20, Toyo-pearl HW-40F, silica gel, ODS, and MCI column chromatography. The structures of compounds were identified by high-resolution mass spectrometry, ~1H-NMR, ~(13)C-NMR, HMQC, HMBC, and ~1H-~1H COSY, as well as physicochemical properties of compounds and literature data. Twelve compounds were isolated from 30% ethanol fraction of the seeds of M. oleifera and identified as ethyl-4-O-α-L-rhamnosyl-α-L-rhamnoside(1), ethyl-3-O-α-L-rhamnosyl-α-L-rhamnoside(2),(4-hydroxybenzyl)ethyl carbamate(3),(4-aminophenyl)acetic acid(4), ethyl-α-L-rhamnoside(5), methyl-α-L-rhamnoside(6), moringapyranosyl(7), 2-[4-(α-L-rhamnosyl)phenyl]methyl acetate(8), niaziridin(9), 5-hydroxymethyl furfural(10), 4-hydroxybenzeneacetamide(11), and 4-hydroxybenzoic acid(12). Among them, compounds 1 and 2 are two new compounds, compound 3 is a new natural product, and compounds 4-5 were yielded from Moringa plant for the first time. All compounds were evaluated for α-glucosidase inhibitory activity in vitro. Compound 10 showed excellent inhibitory activity with IC_(50) of 210 μg·mL~(-1).

Comparison of the Nerve Regeneration Capacity and Characteristics between Sciatic Nerve Crush and Transection Injury Models in Rats / 生物医学与环境科学（英文）

OBJECTIVE@#To provide useful information for selecting the most appropriate peripheral nerve injury model for different research purposes in nerve injury and repair studies, and to compare nerve regeneration capacity and characteristics between them.@*METHODS@#Sixty adult SD rats were randomly divided into two groups and underwent crush injury alone (group A, n = 30) or transection injury followed by surgical repair (group B, n = 30) of the right hind paw. Each group was subjected to the CatWalk test, gastrocnemius muscle evaluation, pain threshold measurement, electrophysiological examination, retrograde neuronal labeling, and quantification of nerve regeneration before and 7, 14, 21, and 28 days after injury.@*RESULTS@#Gait analysis showed that the recovery speed in group A was significantly faster than that in group B at 14 days. At 21 days, the compound muscle action potential of the gastrocnemius muscle in group A was significantly higher than that in group B, and the number of labeled motor neurons in group B was lower than that in group A. The number of new myelin sheaths and the g-ratio were higher in group A than in group B. There was a 7-day time difference in the regeneration rate between the two injury groups.@*CONCLUSION@#The regeneration of nerve fibers was rapid after crush nerve injury, whereas the transection injury was relatively slow, which provides some ideas for the selection of clinical research models.

Clinical value of new coagulation biomarkers in pediatric sepsis / 中华儿科杂志

Objective: To evaluate the clinical value of new coagulation biomarkers including soluble thrombomodulin (sTM) and tissue plasminogen activator inhibitor complex (t-PAI·C) for the diagnosis and prognosis of sepsis in children. Methods: The prospective observational study enrolled 59 children who were diagnosed with sepsis including severe sepsis and septic shock in the Department of Pediatric Critical Care Medicine of Shanghai Children's Medical Center affiliated to the Medical College of Shanghai Jiao Tong University from June 2019 to June 2021. The sTM, t-PAI·C and conventional coagulation tests were detected on illness day one of sepsis. Twenty healthy children were selected as the control group, and the above parameters were detected on the day of inclusion. Children with sepsis were divided into survival group and non-survival group according to prognosis at discharge. Baseline comparisons between groups were performed using Mann-Whitney U test. Multivariate Logistic regression analysis was used to evaluate the risk factors for the diagnosis and prognosis of sepsis in children. Receiver operating characteristic (ROC) curve was conducted to evaluate the predictive values of above variables for the diagnosis and prognosis of sepsis in children. Results: The sepsis group included 59 patients (39 boys and 20 girls), aged 61(22, 136)months. There were 44 patients in the survival group and 15 patients in the non-survival group, respectively. The control group consisted of 20 boys, aged 107 (94,122) months. Patients in the sepsis group had higher sTM and t-PAI·C ((12 (9, 17)×103 vs. 9(8, 10)×103 TU/L, 10(6, 22) vs. 2 (1, 3) μg/L, Z=-2.15, -6.05, both P<0.05) compared with children in the control group. The t-PAI·C was superior to sTM for the diagnosis of sepsis. The areas under the curve (AUC) of t-PAI·C and sTM for the diagnosis of sepsis were 0.95 and 0.66, respectively, and the optimal cut-off value were 3 μg/L and 12×103 TU/L, respectively. Patients in the survival group had lower sTM (10 (8, 14)×103 vs. 17 (11, 36)×103 TU/L, Z=-2.73, P=0.006) than those in the non-survival group. Logistic regression analysis showed that sTM was a risk factor for death at discharge (OR=1.14, 95%CI 1.04-1.27, P=0.006). The AUC of sTM and t-PAI·C for predicting death at discharge were 0.74 and 0.62, respectively, and the optimal cut-off values were 13×103 TU/L and 6 μg/L, respectively. The AUC of sTM combined with platelet counts for predicting death at discharge was 0.89, which was superior to sTM and t-PAI·C. Conclusion: The sTM and t-PAI·C had clinical application values in diagnosing and predicting prognosis in pediatric sepsis.

Effects of costal cartilage cortex on nasal tip contour improvement / 中华医学美学美容杂志

Objective:To investigate the effect of autologous costal cartilage cortex as nasal tip support and modified graft for nasal tip contour improvement.Methods:From June 2020 to June 2021, 116 patients (male 26, female 90, aged 20-45 years) who received rhinoplasty in the cosmetic surgery department of Myoung Beaucare Clinic of Beijing, were examined the costal cartilage by CT, and the costal cartilage was cut. The costal cartilage cortex was made into " strip" and " cap" grafts to shape the nasal tip, and the nasal dorsum was raised by polytetrafluoroethylene or silicone prosthesis for comprehensive rhinoplasty.Results:A total of 116 patients were followed up for an average of 11.7 months. After the operation, there was no space occupying in the nasal cavity, no graft protrusion, no obvious foreign body feeling in the nasal valve, and the nasal tip could swing left and right. At the same time, the nasal tip showed obvious signs, the lower lobule was full, and there were no complications such as cartilage appearance, exposure, infection, etc. Due to the untreated deviation of nasal septum, 3 cases had deviation of nasal columella and asymmetric nostrils. The shape of nasal tip was stable in the remaining 113 cases, and satisfactory results were obtained.Conclusions:By using autologous costal cartilage cortex as nasal tip support and modification graft for nasal tip contour improvement, the shaped nasal tip is soft and movable, and does not affect the airway. It is a good surgical technique in nasal tip plastic surgery, which is worthy of clinical application.

Application of nasal aesthetic polygon theory in reconstruction of new domes by costal cartilage on nasal tip / 中华医学美学美容杂志

Objective:To explore the application of nasal aesthetic polygon theory in the reconstruction of new domes on nasal tip with autogenous costal cartilage.Methods:From June 2019 to June 2021, 116 patients (26 males and 90 females) received rhinoplasty, CT-assisted examination of the costal cartilage, nasal bone and nasal cartilage was performed, and the autogenous costal cartilaginous cortex was used to make dome reconstruction grafts that were transplanted to the original alar cartilage and partially fixed to the original nasal septum cartilage to form a satisfactory and natural nasal shape.Results:All the patients were followed up for 6-24 months. No cartilaginous, overrotated or underrotated appearance was found in nasal tip. The shape of nasal tip was clear and good, with an obvious performance point and full lower lobule. The nose was tall and straight, and looked natural and beautiful in three dimensions.Conclusions:The nasal aesthetic polygon theory is used to guide the reconstruction of new domes with autogenous costal cartilage in nasal tip surgery. Compared to the cap and shield grafts, the nasal tip is more close to the normal anatomical structure, the shape and texture are more similiar to the natural state and the nasal tip is softer by using autogenous costal cartilage, and so it is an ideal surgical procedure for nasal tip reconstruction.

Value of smart phone-assisted instant telecytopathology for rapid on-site evaluation in endoscopic ultrasound-guided fine needle aspiration / 中华消化内镜杂志

Objective:To explore the feasibility of smart phone real-time picture exchange-assisted telecytopathology for rapid on-site evaluation (tele-ROSE), and the role of tele-ROSE in improving the diagnostic efficiency of endoscopic physicians.Methods:Data of patients who underwent endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) from April 2020 to May 2021 in Qilu Hospital of Shandong University were retrospectively collected. Patients who didn't receive ROSE from April 2020 to October 2020 were enrolled in the non-ROSE group, and those who underwent ROSE from November 2020 to May 2021 were enrolled in the ROSE group, of which endosonographers used WeChat on the smartphone to send ROSE images to cytopathologists from November 2020 to March 2021 were the mobile phone group, and those whose ROSE results independently diagnosed by trained endosonographers from April 2021 to May 2021 were the self-ROSE group. Basic information, ROSE results, postoperative pathology and follow-up were compared, and the diagnostic effectiveness of tele-ROSE was analyzed.Results:A total of 188 cases were included, of which 179 cases (95.2%) were solid pancreatic lesions and 9 (4.8%) were enterocoelia lesions. There was no significant difference in the puncture time among the non-ROSE, mobile phone and self-ROSE groups [3 (3, 4) VS 3 (3, 4) VS 3 (2, 4), H=1.320, P=0.517]. With the final diagnosis as the golden standard, the sensitivity, the specificity, the accuracy, the positive predictive value, the negative predictive value and Kappa value of the non-ROSE group were 80.6% (58/72), 89.5% (17/19), 82.4% (75/91), 96.7% (58/60), 54.8% (17/31), and 0.6 respectively. The corresponding indices in the ROSE group were 97.4% (74/76), 100.0% (21/21), 97.9% (95/97), 100.0% (74/74), 91.3% (21/23), and 0.9 respectively, those of the mobile phone group were 95.2% (40/42), 100.0% (10/10), 96.2% (50/52), 100.0% (40/40), 83.3% (10/12), and 0.9 respcetively, and those of the self-ROSE group were 100.0% (34/34), 100.0% (11/11), 100.0% (45/45), 100.0% (34/34), 100.0% (11/11), and 1.0 respectively. The sensitivity ( P=0.002), the accuracy ( P=0.001) and the negative predictive value ( P=0.009) of the ROSE group were significantly higher than those of the non-ROSE group, and there was no significant difference in other diagnostic efficacy indices ( P>0.05). There was no significant difference between the mobile phone group and the self-ROSE group in diagnostic efficacy ( P>0.05). Conclusion:Instant smartphone-assisted tele-ROSE through WeChat can well meet the needs of pathologists and endoscopic physicians. After the application of tele-ROSE training, the diagnostic accuracy of endoscopic physicians is equivalent to that of cytopathologist, which helps to obtain more sufficient specimens under endoscopy and improve the diagnostic accuracy of EUS-FNA.

The value of shear wave elastography in quantitative evaluation of carotid elasticity in type 2 diabetes patients with nonalcoholic fatty liver disease / 中国医师杂志

Objective:To analyze the value of shear wave elastography (SWE) in evaluating carotid artery elasticity in type 2 diabetes mellitus (T2DM) patients with nonalcoholic fatty liver disease (NAFLD).Methods:A total of 98 T2DM patients diagnosed in the Second Affiliated Hospital of Dalian Medical University were selected and divided into three groups according to the results of liver ultrasound examination. 35 patients without NAFLD were in group A, 33 patients with mild NAFLD were in group B, and 30 patients with moderate to severe NAFLD were in group C. All selected individuals showed no plaque formation on carotid ultrasound examination. Left carotid artery intima-media thickness (IMT), carotid artery systolic diameter (Ds), carotid artery diastolic diameter (Dd), and peak systolic velocity (PSV) were measured using conventional two-dimensional and M-mode ultrasound. The stiffness coefficient (β) was obtained through calculation. SWE was used to measure the mean longitudinal modulus of elasticity (MEmean), mean minimum modulus of elasticity (MEmin), and mean maximum modulus of elasticity (MEmax) of the left carotid artery at the end of diastole.Results:There was no statistically significant difference in Ds, Dd, and PSV among the three groups (all P>0.05). Compared with group A and group B, group C had significantly higher IMT, β, MEmean, MEmax, and MEmin (all P<0.05). Compared with the group A, the group B had higher levels of MEmean, MEmax, and MEmin (all P<0.05), there was no statistically significant difference in IMT and β between the groups (all P>0.05). Correlation analysis showed that MEmax, MEmean, and MEmin in each group were positively correlated with β ( r=0.537, 0.543, 0.525, P<0.01), and also positively correlated with HbA 1c ( r=0.456, 0.483, 0.438, P<0.01), but not with IMT (all P>0.05). The intra observer Intraclass correlation coefficient (ICC) of MEmax, MEmean and MEmin measured by SWE was 0.847-0.887, and the inter observer ICC was 0.791-0.934, indicating a good repeatability. Conclusions:SWE can quantitatively evaluate the elasticity of the carotid artery in patients with T2DM and NAFLD.

Application research of case teaching method based on "Rain Classroom" and standardized patients in the obstetrics and gynecology probation course / 中华医学教育探索杂志

In view of the problems existing in the probation teaching of obstetrics and gynecology, such as patients' non-cooperation, few cases and few practical opportunities. This study discusses the application effect of case teaching based on "Rain Classroom" and standardized patients in the obstetrics and gynecology probation course. The teaching is carried out by carefully selecting cases, refining pre-class preparation, adopting various teaching forms, and carrying out evaluation after class. In order to evaluate the teaching effect, an anonymous survey was carried out among 330 undergraduate interns majoring in clinical medicine, prevention, and forensic medicine in Batch 2015. The results showed that 210 (93.8%) of 224 (67.9%) students who participated in the survey believed that this method could promote learning enthusiasm and 200 students (89.3%) thought it could activate classroom atmosphere more than traditional teaching; most students thought it improved students' communication ability (163, 72.8%), clinical practice ability (189, 84.4%), and ability to analyze and solve problems (171, 76.3%) and deepening the understanding, mastery and application of knowledge (158, 70.5%). It shows that this method can improve the teaching effect of obstetrics and gynecology probation course to a certain extent.

A scoping review of related factors affecting the participation of the elderly in digital health interventions / 中国实用护理杂志

Objective:To review the scope of related factors that affect the elderly′s participation in digital health intervention, and to provide a certain reference for the application and development of smart elderly technology.Methods:Based on the scope review guidelines issued by the Joanna Briggs Institute in Australia in 2019, the inclusion and exclusion criteria were determined according to the PCCS principles. Chinese and English literatures were searched in PubMed, Cochrane Library, JBI, CINAHL, Web of Science, Scopus, CNKI, Wanfang database and Chinese biomedical literature database. The search time limit was from the establishment of the database to November 30, 2021. Two researchers independently read, and used EndNoteX9 and Excel tables to extract relevant data from the literature for summary and analysis.Results:Totally 20 articles were selected, including 2 mixed studies, 10 cross-sectional studies, 6 qualitative studies, and 2 quasi-experimental studies. Relevant factors affecting the participation of the elderly in digital health interventions involved the developers, users and the user himself of digital health intervention systems, including the degree of system integration of system development, the degree of autonomy of the elderly, the credibility and accessibility of system equipment and ease of use; the degree of compatibility of equipment in the process of use, the degree of digital infrastructure configuration, the degree of Internet penetration, the availability and reliability of health information resources, the degree of training and education, the degree of communication with the elderly in the process of participation, financial payment, etc.; the four inherent factors of the elderly included the cost of technology use, technical anxiety, privacy and safety, and health needs.Conclusions:The elderly, medical staff, developers and other stakeholders should jointly participate in decision-making on the development and management of the digital health intervention system for the elderly, especially by inviting and empowering the elderly , and improve the training and feedback of the system application and use process, accelerate the popularization and promotion of technical resources, and increase social capital and financial payment incentives to reduce the burden on the elderly and the medical system.

Research progress on mechanisms of neuroinflammation induced by methamphetamine and HIV-1 Tat protein / 中国药理学通报

Methamphetamine abuse and HIV infection are extremely serious public health and social problems facing the world today. Methamphetamine and HIV-1 Tat protein can induce neurotoxicity in an individual and synergistic way, and neuroinflammation is one of the most important mechanisms for ca-using neurotoxicity. Neuroinflammation can be mediated by glial cells, cytokines, NLRP3 inflammasomes, etc. This paper reviews the research progress of neuroinflammation induced by methamphetamine and HIV-1 Tat protein in recent years, with the aim of providing reference and basis for further exploration of the mechanisms of neuroinflammation caused by them and effective drug intervention targets in the future.

Research progress of endothelial-mesenchymal transdifferentiation in fibrotic diseases / 中国药理学通报

Fibrosis is a repair response initiated by tissues and organs after injury, and is a self-protection mechanism of the body. It has been found that endothelium-to-interstitial transdifferentiation (EndMT) is involved in the physiological and pathological processes of various organ fibrosis, which has become a focus of the research on fibrotic diseases. In recent years, the study has found that EndMT plays an important role in many pathological processes in cardiovascular system, lungs, kidneys, liver, pancreas fibrosis, and so on. This article summarizes EndMT regulatory mechanism and its role in each organ fibrosis, as well as the related treatment progress of EndMT targets, so as to provide new targets for prevention and control of organ fibrosis.

Study on preventive and therapeutic effect of Tongbu-fangchan prescription on Ach-CaCl / 中国药理学通报

Aim To explore he preventive and therapeutic effects of Tongbu-fangchan prescription on aceylcholine-calcium chloride (Ach-CaCl

Clinical analysis of 10 cases of multi-center tumor necrosis factor receptor-associated periodic syndrome / 中华儿科杂志

Objective: To summarize the clinical characteristics of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) in children. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 10 children with TRAPS from May 2011 to May 2021 in 6 hospitals in China were retrospectively analyzed. Results: Among the 10 patients with TRAPS, including 8 boys and 2 girls. The age of onset was 2 (1, 5) years, the age of diagnosis was (8±4) years, and the time from onset to diagnosis was 3 (1, 7) years. A total of 7 types of TNFRSF1A gene variants were detected, including 5 paternal variations, 1 maternal variation and 4 de novo variations. Six children had a family history of related diseases. Clinical manifestations included recurrent fever in 10 cases, rash in 4 cases, abdominal pain in 6 cases, joint involvement in 6 cases, periorbital edema in 1 case, and myalgia in 4 cases. Two patients had hematological system involvement. The erythrocyte sedimentation rate and C-reactive protein were significantly increased in 10 cases. All patients were negative for autoantibodies. In the course of treatment, 5 cases were treated with glucocorticoids, 7 cases with immunosuppressants, and 7 cases with biological agents. Conclusions: TRAPS is clinically characterized by recurrent fever accompanied by joint, gastrointestinal, skin, and muscle involvement. Inflammatory markers are elevated, and autoantibodies are mostly negative. Treatment mainly involves glucocorticoids, immunosuppressants, and biological agents.

Analysis of Chinese Medical Syndrome Features of Ischemic Stroke Based on Similarity of Symptoms Subgroup / 中国结合医学杂志

OBJECTIVE@#To derive the Chinese medicine (CM) syndrome classification and subgroup syndrome characteristics of ischemic stroke patients.@*METHODS@#By extracting the CM clinical electronic medical records (EMRs) of 7,170 hospitalized patients with ischemic stroke from 2016 to 2018 at Weifang Hospital of Traditional Chinese Medicine, Shandong Province, China, a patient similarity network (PSN) was constructed based on the symptomatic phenotype of the patients. Thereafter the efficient community detection method BGLL was used to identify subgroups of patients. Finally, subgroups with a large number of cases were selected to analyze the specific manifestations of clinical symptoms and CM syndromes in each subgroup.@*RESULTS@#Seven main subgroups of patients with specific symptom characteristics were identified, including M3, M2, M1, M5, M0, M29 and M4. M3 and M0 subgroups had prominent posterior circulatory symptoms, while M3 was associated with autonomic disorders, and M4 manifested as anxiety; M2 and M4 had motor and motor coordination disorders; M1 had sensory disorders; M5 had more obvious lung infections; M29 had a disorder of consciousness. The specificity of CM syndromes of each subgroup was as follows. M3, M2, M1, M0, M29 and M4 all had the same syndrome as wind phlegm pattern; M3 and M0 both showed hyperactivity of Gan (Liver) yang pattern; M2 and M29 had similar syndromes, which corresponded to intertwined phlegm and blood stasis pattern and phlegm-stasis obstructing meridians pattern, respectively. The manifestations of CM syndromes often appeared in a combination of 2 or more syndrome elements. The most common combination of these 7 subgroups was wind-phlegm. The 7 subgroups of CM syndrome elements were specifically manifested as pathogenic wind, pathogenic phlegm, and deficiency pathogens.@*CONCLUSIONS@#There were 7 main symptom similarity-based subgroups in ischemic stroke patients, and their specific characteristics were obvious. The main syndromes were wind phlegm pattern and hyperactivity of Gan yang pattern.

Evaluation of Renal Impairment in Patients with Diabetic Kidney Disease by Integrated Chinese and Western Medicine / 中国结合医学杂志

OBJECTIVE@#To investigate the factors related to renal impairment in patients with diabetic kidney disease (DKD) from the perspective of integrated Chinese and Western medicine.@*METHODS@#Totally 492 patients with DKD in 8 Chinese hospitals from October 2017 to July 2019 were included. According to Kidney Disease Improving Global Outcomes (KDIGO) staging guidelines, patients were divided into a chronic kidney disease (CKD) 1-3 group and a CKD 4-5 group. Clinical data were collected, and logistic regression was used to analyze the factors related to different CKD stages in DKD patients.@*RESULTS@#Demographically, male was a factor related to increased CKD staging in patients with DKD (OR=3.100, P=0.002). In clinical characteristics, course of diabetes >60 months (OR=3.562, P=0.010), anemia (OR=4.176, P<0.001), hyperuricemia (OR=3.352, P<0.001), massive albuminuria (OR=4.058, P=0.002), atherosclerosis (OR=2.153, P=0.007) and blood deficiency syndrome (OR=1.945, P=0.020) were factors related to increased CKD staging in patients with DKD.@*CONCLUSIONS@#Male, course of diabetes >60 months, anemia, hyperuricemia, massive proteinuria, atherosclerosis, and blood deficiency syndrome might indicate more severe degree of renal function damage in patients with DKD. (Registration No. NCT03865914).