Objective:To explore the clinical characteristics and pathogenic variant in a child with Cantú syndrome (CS).Methods:A male who was admitted to the Children′s Hospital Affiliated to Zhengzhou University on February 23, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole-exome sequencing (WES). Candidate variant was verified by Sanger sequencing. This study was approved by Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-087).Results:The child, a 3-year-and-2-month-old male, was born with hirsutism, with heavy hair all over the body and peculiar facial features. Routine echocardiography 1 month before had discovered atrial septal defect. Sequencing revealed that the child has harbored a heterozygous c. 2438G>C (p.S813T) variant of the ABCC9 gene, which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 2438G>C variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion:The heterozygous c. 2438G>C variant of the ABCC9 gene probably underlay the pathogenesis of CS in this child.

Animals ; Antibodies, Neutralizing/biosynthesis* ; Antibodies, Viral/biosynthesis* ; Body Weight/immunology* ; COVID-19/virology* ; Disease Models, Animal ; Disease Progression ; Humans ; Immunohistochemistry ; Lung/virology* ; Male ; Mesocricetus ; Nasal Cavity/virology* ; RNA, Viral/immunology* ; SARS-CoV-2/pathogenicity* ; Severity of Illness Index ; Viral Load

Objective:To explore the clinical efficacy of proximal femoral anatomical locking plate and autogenous iliac graft for failed primary internal fixation in treatment of femoral intertrochanteric fracture.Methods:A retrospective analysis was conducted of the 29 patients with femoral intertrochanteric fracture who had been treated after failed primary internal fixation at Department of Orthopaedics and Trauma, Xi'an Honghui Hospital between January 2014 and March 2017. They were 17 men and 12 women, aged from 35 to 83 years (mean, 68.7 years). Their primary internal fixation involved dynamic hip screw in 12 cases, proximal femoral locking plate in 13 cases, and intramedullary nail in 4 cases. The causes for their internal fixation failure included head cutting in 8 cases, fracture nonunion in 10 cases, plate or screw breakage in 6 cases, intramedullary nail breakage in 3 cases, and hip varus in 2 cases. Their revision surgery was performed with anatomical proximal femoral locking plate and autogenous iliac bone graft. Their fracture union time, and visual analogue scale (VAS), hip Harris score, SF-36 health survey scale and complications at the final follow-ups were recorded.Results:All the 29 patients were followed up for 12 to 24 months (18 months on average). Bony union was eventually achieved in all the 29 patients after an average time of 4.5 months (from 3 to 7 months). There were no such complications as nonunion, re-fracture or internal fixation failure. The VAS pain score at the final follow-up(4.6±1.6) was significantly lower than that before surgery(7.1±2.1), and the Harris hip score(85.2±8.2) and SF-36 score(75.9±15.5) at the final follow-up were significantly higher than those before surgery (48.0±12.7 and 48.7±18.8) (all P<0.05). According to their hip Harris scores at the final follow-ups, the therapeutic efficacy was rated as excellent in 9 cases, as good in 15 cases and as poor in one, yielding an excellent and good rate of 82.8%. Conclusion:For patients with femoral intertrochanteric fracture whose primary internal fixation has failed, especially those with fine femoral head and neck and hip joint, proximal femoral anatomic locking plate and autogenous iliac bone graft can result in satisfactory clinical efficacy.

OBJECTIVE: To explore the effect of acupuncture at the "reflection points" of affected side on the peripheral facial paralysis in acute phase. METHODS: Ninety patients with peripheral facial paralysis in acute phase were randomly divided into a reflection group (group A), a conventional acupuncture group (group B) and a physiotherapy group (group C), 30 cases in each group. The same basic medication were given in all three groups. In the group A, acupuncture at "reflection points" of the affected side and local acupoints in acute phase, such as Dicang (ST 4), Jiache (ST 6), Quanliao (SI 18), Xiaguan (ST 7), Yangbai (GB 14), Taiyang (EX-HN 5), etc. were applied. The electroacupuncture was added in the stationary phase, and Zusanli (ST 36) was added in the recovery phase. In the group B, acupuncture at Yifeng (TE 17) of the affected side in acute phase and local acupoints, such as Dicang (ST 4), Jiache (ST 6), Quanliao (SI 18), Xiaguan (ST 7), Yangbai (GB 14), Taiyang (EX-HN 5), etc. were applied. The electroacupuncture was added in the stationary phase, and Zusanli (ST 36) was added in the recovery phase. In the group C, ultrashort wave on Yifeng (TE 17) of the affected side in acute phase was applied, and the treatment in the stationary phase and the recovery phase was the same as the group B. The treatment was given once every day, 5 times as one course for 4 courses. The House-Brackmann (H-B) grading scale, facial disability index scale, the symptom and physical score integral scale were used to score before and after treatment, and the clinical effects of the three groups were compared. RESULTS: After treatment, the functional grade of H-B facial nerve was better than that before treatment in the three groups (<0.01). There was no significant difference among the three groups after treatment (>0.05). After treatment, the course of treatment required to reflect the healing in the group A was shorter than that in the group B and the group C (<0.01); the body function scores and social function scores in the three groups were better than those before treatment (<0.01), there was no significant difference among the three groups after treatment (>0.05). The scores of symptoms and signs in the three groups were lower than those before treatment (<0.01), there was no significant difference among the three groups after treatment (>0.05). H-B facial nerve function grading scale and facial disability index (FDI) scale were used as the evaluation criteria, the curative rate was 66.7% (20/30) in the group A, 50.0% (15/30) in the group B and 46.7% (14/30) in the group C, the curative rate in the group A was better than the other two groups (<0.05). The curative and markedly effective rate in the group A was 83.3% (25/30), 70.0% (21/30) in the group B and 63.3% (19/30) in the group C, the curative and markedly effective rate in the group A was better than the other two groups (<0.05). The scores of symptoms and signs were used as the evaluation criteria, the curative rate was 66.7% (20/30) in the group A, 50.0% (15/30) in the group B, and 46.7% (14/30) in the group C. The curative rate in the group A was better than the other two groups (<0.05). CONCLUSION Compared with general acupuncture and physiotherapy, acupuncture at the "reflection points" of the affected side on the peripheral facial paralysis in acute phase could shorten the course of treatment and improve the curative effect.
Acupuncture Points ; Acupuncture Therapy ; Electroacupuncture ; Facial Paralysis ; therapy ; Humans

Kangfu Xiaoyan Suppository is widely used in the treatment of gynecological inflammatory diseases. Long-term clinical application and a certain amount of research evidences show that Kangfu Xiaoyan Suppository can alleviate the clinical symptoms of pelvic inflammatory diseases,reduce the recurrence rate,and relieve sequelae,with a better safety and economic characteristics. As a type of nationally protected traditional Chinese medicine and type B medicine included in medical insurance,it has been selected as a Chinese patent medicine for rectal administration. It was included in the Guidelines for diagnosis and treatment of common gynecological diseases of traditional Chinese medicine published by the Chinese Academy of Traditional Chinese Medicine in 2012,the Pelvic inflammatory diseases diagnosis and treatment guidelines issued by the Infectious Diseases Collaborative Group of the Obstetrics and Gynecology Branch of the Chinese Medical Association in 2014,and the group standard of Single use of traditional Chinese medicine/combined antibiot guidelines for clinical practice-pelvic inflammatory diseases of the Chinese Academy of Traditional Chinese Medicine in 2017. To further enhance clinicians' understanding of the drug and better guide its rational clinical use,experts from the field of gynecology of traditional Chinese and Western medicine were invited to develop and compile this expert consensus. This consensus takes full account of clinical evidences and expert clinical experience,and form recommendations for clinical problems based on evidences and consensus recommendations for clinical problems without evidence by nominal grouping method. The expert consensus is mainly formed in the consideration of six factors: quality of evidence,economy,efficacy,adverse reactions,patient acceptability and others. Based on clinical research evidences and expert experience,this consensus provides a preliminary reference for the clinical use of the drug in a concise and clear format. However,evidence-based support is still required in a large number of high-quality studies,and this consensus will be revised in the future according to new clinical problems and the update of evidence-based evidence in practical application.
Consensus ; Drugs, Chinese Herbal/therapeutic use* ; Female ; Humans ; Medicine, Chinese Traditional ; Nonprescription Drugs ; Pelvic Inflammatory Disease/drug therapy* ; Suppositories

The present study is to explore the material basis and mechanism of Erzhi Wan the prevented Alzheimer's disease by using network pharmacology. The key target of Alzheimer's disease was docked with the Erzhi Wan compounds, and the drugs-target combined with target-signal pathway network model was established by Cytoscape 3.2.1 software. Thirty compounds have a strong interaction with key target of Alzheimer's disease and three key pathways related with Wnt, MAPK and PI3K-Akt-mTOR. There are 5 ingredients such as quercetin,geraniol,beta-sitosterol,nerol,eriodictyol that could be verified from literature.This result initially revealed the material basis for Erzhi Wan for Alzheimer's disease and the mechanism in terms of three signaling pathways. The network pharmacology method found that the active ingredients of Erzhi Wan for Alzheimer's disease may be quercetin,geraniol,beta-sitosterol,nerol,and eriodictyol, and the mechanism may be related to three signal pathways including Wnt, MAPK, and PI3K-Akt-mTOR.

Objective To evaluate the molecular mechanism of micro RNA542-3p (miR-542-3p) in the invasion and metastasis of colorec-tal cancer.Methods Forty paired colorectal cancer patients with cancer tissue and relative normal colorectal tissue , different metastasis ability colorectal cancer cell lines ( Lovo, LS1747, SW620, HT29, SW480 ) and normal colorectal epithelial cells were tested of the miR-542-3 p expression by real -time polymerase chain reaction.The ability of prolif-eration or migration for SW480 or HT29 cells were tested after transinfec-tion of miR-542-3p, mimics and inhibitor after 24 h.The physiologi-cal characteristics such as proiferation , migration of colon cancer cells was evaluated.The biological function of miR -542-3 p was evaluated in colorectal cancer cells.Results MiR-542-3p expression in cancer tissues was significantly lower than that in normal intestinal epithelium ( P<0.05 ) .MiR-542-3 p was higher expressed in normal colorectal epithelial cells compared to colorectal cancer cell lines ( HT29 , SW620 and Lovo , P<0.05 ) .MiR-542-3 p was higher expressed in the high metastasis cancer cell lines ( SW620 and Lovo ) compared to low metastasis cancer cells (P<0.05).After 24, 48, 72 and 96 h, the cell proliferation ability was no significant difference in inhibitor mir-542-3p inhibitor group, miR-542-3p mimics group, control group, mimics control group (P>0.05).After 24 h, the migration ability in mir -542-3p mimics group was significantly lower than that of mimics control group ( P<0.05 ) , and the migration ability in miR -542-3 p inhibitor group was significantly higher than that of inhibitor control group (P<0.05).Conclusion MiR-542-3p may play a role in inhibiting cell metastasis in colon cancer cells, which can be used as biomarker for colorectal cancer metastasis .

Objective To explore the effect of down regulation of EZH2 expression by shRNA on apoptosis and proliferation in colorectal cancer cell.Methods The human colorectal cancer cell line HCT116 was used as the materials.The EZH2 expression was knockdown by traninfecting siRNA.The EZH2 protein expression was tested by western-blot array, the HCT116 apoptosis rate was tested by flow cytometry array and the HCT116 cell proliferation ability was tested by MTT array.Results The EZH2 protein significant decreased by si -EZH2 ( P <0.05 ) .The apoptosis rate significant increased by knockdown the EZH2 expression ( P<0.05) .And the proliferation ability was inhibited after knockdown the EZH2 expression ( P<0.05).Conclusion EZH2 may be involved in the process of apoptosis and proliferation in human colorectal cancer cells which could be a potential target for treatment.

Objective To evaluate the effects of postconditioning with enalapril on myocardial injury induced by hind limb ischemia-reperfusion (I/R) in rats.Methods Thirty-six healthy male Sprague-Dawley rats,weighing 200-250 g,were randomly divided into 3 groups (n =12 each):group sham operation (group S),group I/R and group enalapril postconditioning (group EP).Limb ischemia was induced by occlusion of bilateral hind limbs for 3 h followed by 3 h reperfusion in groups I/R and EP.At 30 min before reperfusion,enalapril 0.04 mg/kg was injected via the internal jugular vein in group EP,while the equal volume of normal saline was injected in groups S and I/R.The rats were sacrificed at 3 h of repeffusion and myocardial specimens were obtained for microscopic examination of pathologic changes and for determination of cell apoptosis,Bcl-2 and Bax protein expression,superoxide dismutase (SOD) activity and malondialdehyde (MDA) content in myocardial tissues.Apoptosis index was calculated.Results Compared with group S,apoptosis index and MDA content were significantly increased,Bax protein expression was up-regulated,Bcl-2 protein expression was down-regulated,and SOD activity was decreased in groups I/R and EP (P ＜ 0.05).Compared with group I/R,apoptosis index and MDA content were significantly decreased,Bax protein expression was down-regulated,Bcl-2 protein expression was up-regulated,and SOD activity was increased in group EP (P ＜ 0.05).The pathologic changes were significantly attenuated in group EP as compared with group I/R.Conclusion Enalapril postconditioning can attenuate myocardial injury induced by hind limb I/R in rats,and the mechanism may be related to reduction of apoptosis in cardiomyocytes and lipid peroxidation.

Since the research of molecular identification of Chinese Materia Medica (CMM) using DNA barcode is rapidly developing and popularizing, the principle of this method is approved to be listed in the Supplement of the Pharmacopoeia of the People's Republic of China. Based on the study on comprehensive samples, the DNA barcoding systems have been established to identify CMM, i.e. ITS2 as a core barcode and psbA-trnH as a complementary locus for identification of planta medica, and COI as a core barcode and ITS2 as a complementary locus for identification of animal medica. This article introduced the principle of molecular identification of CMM using DNA barcoding and its drafting instructions. Furthermore, its application perspective was discussed.
Animals ; China ; DNA ; genetics ; DNA Barcoding, Taxonomic ; methods ; DNA, Ribosomal Spacer ; genetics ; Drugs, Chinese Herbal ; classification ; isolation & purification ; Electron Transport Complex IV ; genetics ; Materia Medica ; classification ; isolation & purification ; Medicine, Chinese Traditional ; Plant Proteins ; genetics ; Plants, Medicinal