Objective To explore the effect of trimetazidine, telmisartan and low molecular weight heparin (LMWH) on improving cardiopulmonary function, hemorheology and clinical symptom of chronic pulmonary heart disease in acute exacerbation. Methods A total of 96 patients with chronic pulmonary heart disease in acute exacerbation were randomly divided into group A (40 cases) and group B (56 cases ).The group A was treated with general method and the group B was treated with trimetazidine, telmisartan and LMWH besides general method. After 3 weeks' treatment, ca_rdiopulmonary functional parameters,hemorbeology parameters and clinical symptoms were observed. Results After treatment, the left ventricular ejection fraction (LVEF), and the ratio of forced expiratory volume in one second and forced vital capacity (FEV_1/FVC ) improved in group B (P<0.05 ), and there were significant difference in LVEF, FEV_1/FVC after treatment between two groups (P<0.05). The clinical total effective rate in group B (92.9%, 52/56 ) was significantly higher than that in group A (67.5%, 27/40 ) ( P<0.05 ). Conclusion Trimetazidine, telmisartan and LMWH is effective to improve patients' cardiopulmonary function, hemorheology parameters and clinical symptoms in the treatment of chronic pulmonary heart disease in acute exacerbation.

Notch signaling is one of the most important signaling pathways in vertebrates and inverte -brates.It regulates apoptosis,proliferation,differentiation and so on.The up -regulation,down -regulation or structural changes of Notch signal are closely related to the development of various malignant tumors .In the pres-ent study,four Notch phenotypes(Notch1-4)have been identified,which bind to their ligands respectively (Jag-ged1,Jagged2,Delta1,Delta3,Delta4).Notch plays an important role in a variety of malignant tumors .This review focuses on the role of Notch in a variety of solid malignancies ,including its role in the process of tumor develop-ment and treatment .

Objective To evaluate the expression of KAII (CD82) gene inhibited by small interfering RNA (siRNA) in human pancreatic cancer cell line T3. Methods Four sequences of siRNA including A, B,C, D were designed, which were based on the KAI1 gene sequence using online RNA interfering designing software and lentivirus vector was built. Then they were used to transfect T3 cells by liposome 2000 and virus titer was determined. Empty vector containing siRNAd1 lentivrus particle ( MOI =5) was also used to infect T3 cells. The expression of CD82 mRNA was detected by real-time PCR. Results The expression of CD82 mRNA in normal control group, empty vector group, A group, B group, C group, D group were 1. 398 ±0.242,1. 311±0.048, 0. 664 + 0. 093, 0. 345 ± 0. 032, 0. 641 ± 0. 049 and 0. 147 ± 0. 049, respectively, the difference between the expression of CD82 mRNA in empty vector group and that of A, B, C, D groups was significant (P＜0.01 ). Conclusions RNAi was able to inhibit the expression of KAI1 gene CD82 in human pancreatic cancer cell line T3.

Objective To improve early diagnosis of testicular torsion,reduce misdiagnosis and reduce the rate of orchiectomy.Methods The diagnosis and treatment of testicular torsion in 31 cases were retrospectively ana-lyzed.Results 54.8% misdiagnosis rate was in this group,all the 31 cases were diagnosed by color Doppler ultra-sound,including 19 cases of retained testicle and orchiectomy in 12 cases (38.7%).In 19 cases of this group retained testis,testicular torsion time within 5 hours was 2 cases,and postoperative had testicles survival.In the 6 cases of testicular torsion time within 5 hours to 10 hours,5 cases had the testis survival.In the 5 cases of torsion of testis time was 10 hours to 24 hours,3 caseshad the testis survival.In the 6 cases of testicular torsion time more than 24 hours,2 cases of testis survival.After postoperative following-up,19 cases of retained testis had no recurrence,all the 31 cases were found no contralateral testicular torsion and all cases sex hormone levels were in the normal levels. Conclusion Testicular torsion is easily misdiagnosed,color doppler ultrasound should be preferred.Early diagnosis and aggressive surgical exploration,unity and strictly control the orchiectomy surgery indications,means a lot to reduce the rate of orchiectomy.

Objective:To study the clinical value of artificial dermis combined with autologous thin skin graft in the repair of burn scar contracture in joints.Methods:A total of 52 patients with burn scar contractures were enrolled in the No.5 Hospital of Baoding from July 2015 to April 2018. According to different methods of repair, 26 cases were used in each group. The observation group was treated with artificial dermis combined with autologous thin skin graft. The control group was treated with medium-thickness skin grafting. The survival rate of autologous skin was compared between the two groups. The tissue of artificial dermal polyester fiber was taken and HE staining was performed to observe the pathological changes. The Vancouver skin scar assessment score (VSS), functional activity, infection rate, wound healing time, and VSS score after healing of the donor site were compared between the two groups.Results:The survival rate of autologous skin in the observation group (92.31%) was not significantly different from that in the control group (84.62%) ( P>0.05). Compared with preoperative, the VSS scores at 3, 6 months and 1 year after operation in both groups were decreased ( P<0.05). The VSS scores of the observation group were lower than those of the control group at 3, 6 months and 1 year ( P<0.05). The excellent rate of functional activity in the observation group (100.00%) was higher than that of the control group (76.92%) ( P<0.05); There was no significant difference in the infection rate (3.85% vs 7.69%) and healing time of skin grafting area between the two groups ( P>0.05). The healing time of donor site was shorter than that of the control group ( P<0.05). The VSS score of the donor site was lower than that of the control group ( P<0.05). Conclusions:Artificial dermis combined with autologous thin skin graft can be used in patients with burn scar contracture in joints, which can improve the scarring of skin grafting area and donor site, shorten the healing time of donor site and improve the function of burn scar contracture joint.

Objective: To investigate the effect of RNA interference (RNAi) targeting AKT1 and PI3K P85 on the proliferation and invasion of breast carcinoma MCF-7 cells. Methods: The recombinant adenovirus expression vector, which contained short hairpin RNA (shRNA) targeting open reading frames of AKT1 and PI3K P85 (rAd5-siAKT1-siPI3K), was transfected into human breast carcinoma MCF-7 cells. AKT1 and PI3K P85 mRNA and protein expressions were detected by real-time PCR and Western blotting analysis. The expressions of PCNA, cyclinD1, and P53 were also detected by Western blotting analysis. The proliferation and apoptosis of MCF-7 cells were measured by MTT, flow cytometry and 2-dementinal and 3-dementional matrigel assay. Results: Recombinant adenovirus vector rAd5-siAKT1-siPI3K dramatically down-regulated AKT1 and PI3K P85 mRNA and protein expressions in MCF-7 cells; the downstream factors PCNA and cyclin D1 were also down-regulated, while P53 was up-regulated. Growth of MCF-7 cells was inhibited by over 50% in rAd5-siAKT1-siPI3K group as measured by MTT assay, and cell cycle was arrested in G_1/G_0 phase compared with untransfected and rAd5-siCtrl transfected groups. Cell growth on matrigel matrix showed normal cell shapes, while the cells in rAd5-siAKT1-siPI3K transfected group were detached from the matrix or grew in scattered clustering patterns, forming only small aggregates. Conclusion: shRNA targeting AKT1 and PI3K P85 can significantly down-regulate the expression of AKT1 and PI3K P85 in breast carcinoma MCF-7 cells, and inhibit the growth of MCF-7 cells in vitro.

Objective To summarize the clinical features of 22 probands diagnosed with congenital muscular dystrophy (CMD),and to provide genetic counseling and prenatal diagnosis for 23 fetuses of these pedigrees.Methods Data of 22 CMD patients who were treated in the Pediatric Department of Peking University First Hospital during October 2006 to March 2016 were analyzed.Informed written consents for participation in this study were obtained from the parents or guardians.Prenatal diagnosis was performed using DNA samples extracted from fetal villus cells of 12 cases at 11-13 gestational weeks and amniotic fluid of 11 cases at 18-22 gestational weeks.Direct DNA sequencing by polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) were used to detect CMD-related gene mutations.Linkage analysis of short tandem repeats (STRs) was used to identify maternal blood contamination and biological parents.Results Thirteen out of the 22 probands with CMD were diagnosed with congenital muscular dystrophy type 1 A (MDC1A),and all of them carried compound heterozygous mutations in LAMA2 gene.Prenatal diagnosis of 13 fetuses from these pedigrees found that four fetuses were wild-type,seven were heterozygotes and two carried the same mutations as their proband.Three probands with LMNA-related congenital muscular dystrophy (L-CMD) carried de novo mutations in LMNA gene.In these pedigrees,two fetuses were wild-type and one whose mother was mosaicism carried the same mutations as the proband.One proband with Ullrich congenital muscular dystrophy carried compound heterozygous mutations in COL6A2 gene and the fetus of the same pedigree was wild-type.Five probands were diagnosed with α-dystroglycanopathies.And among them,two cases of muscle-eye-brain disease (MEB) carried compound heterozygous mutations in POMGnT1 gene and the fetuses of the two peidgrees were heterozygotes;one case of congenital muscular dystrophy type 1C (MDC1C) had compound heterozygous mutations in FKRP gene and the fetus carried the same mutations;one patient diagnosed with POMGnT1-related congenital muscular dystrophy with mental retardation (CMD-MR) carried compound heterozygous mutations in POMGnT1 gene,and the fetus was positive for the same mutations;one proband with POMT1-related CMD-MR was positive for compound heterozygous mutations in POMT1 gene and the results of prenatal diagnosis for two fetuses of this pedigree showed that the first fetus had the same mutations as the proband,while the second was heterozygote.Conclusions No effective therapeutic method is available for CMD.Therefore,accurate genetic counseling and prenatal diagnosis are necessary to prevent CMD child from birth.

Objective: To evaluate the clinical efficacy and long-term efficacy of Shunwei Jiangni Fang in treating the liver- spleen- stomach disharmony and cold- dampness- heat recurrent reflux esophagitis. Methods: A total of 100 recurrent RE patients were divided into treatment group and control group by the random and control principle, with 50 cases in each group. Patients of 2 groups were treated with Shunwei Jiangni Fang and pantoprazole sodium entericcoated capsules respectively for 8 weeks. By comparing TCM syndrome scores and esophagus 24 h- pH parameters improvement, the clinical efficacy and safety of Shunwei Jiangni Fang in treating the liver-spleen-stomach disharmony and cold-dampness-heat recurrent reflux esophagitis, and perform statistics on the recurrence 6 months after treatment ending were evaluated. Results: ① For the patients with TCM syndromes in the treatment group, 4 cases were recovered, 17 cases were improved, 22 cases were effective, and the total effective rate was 86％; for the patients with TCM syndromes in the control group, 2 cases were recovered, 8 cases were improved, 14 cases were effective, and total effective rate was 48％. Difference of total effective rate for 2 groups was significant (P ＜ 0.05). The heartburn, belching, dry mouth, bitter taste, tiredness, distended abdomen and sticky stool in treatment group were more improved than those of control group (P ＜ 0.05); ② In the control group, the patient's 24 h-pH parameters could be improved, especially, the 24h gastric reflux times and times of reflux ＞ 5min could be reduced more than the control group, and difference was significant (P ＜ 0.05). ③ The treatment group was able to improve the patients' esophageal mucosal inflammation, with no statistically significant difference from the control group (P ＞ 0.05). ④ At 6 months after treatment, the recurrence rate of treatment group and control group was 6.0％ and 28％ respectively, and difference was significant (P ＜ 0.05). Conclusions: Shunwei Jiangni Fang can treat the liver-spleen-stomach disharmony and cold-dampness-heat recurrent reflux esophagitis, with apparently efficacy. It can effectively improve the clinical symptoms, reduce the reflux occurrence times, reduce esophageal mucosal inflammation, lower the recurrence rate, prevent apparent adverse reactions, thus, it shall be widely promoted.

Objective:To summarize the characteristics of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) caused by HINT1 gene mutation. Methods:Retrospective case summary.Clinical data of 2 Tibetan siblings diagnosed with ARAN-NM in the Department of Pediatrics of Peking University First Hospital in August 2023 were retrospectively analyzed.A review of literature reporting relevant Chinese patients was conducted.Results:The proband and her elder brother were aged 13 and 19, respectively.Both developed abnormal gait at the age of 11, followed by varus, claudication, and weak thumb strength.The proband also had neuromyotonia.Physical examinations showed that the proband and her elder brother had decreased muscle strength of the extremities, mainly in the thumbs and distal ends of lower limbs.The distal muscles of the proband′s lower extremities and the muscles of both hands of the proband′s elder brother were atrophied.Both feet showed talipes equinovarus in the proband and her elder brother.The proband′s electromyography (EMG) showed peripheral nerve injuries (motor and sensory axonal involvement, especially in distal ends) and myotonic potentials.The trio-whole exon sequencing detected homozygous pathogenic variation in HINT1 gene in both the proband and her elder brother, who were diagnosed as ARAN-NM based on c. 169A>G (p.K57E). After the Carbamazepine treatment, the proband′s neuromyotonia, numbness and weakness were relieved.Both the proband and her elder brother underwent orthopaedic surgery and rehabilitation.Their foot deformities and gait were significantly improved.Two Chinese literatures (2 patients) and four English literatures (8 patients) were retrieved.Including the proband and her elder brother in this study, there were 12 ARAN-NM patients, 10 of whom had clinical data.The ages of onset and diagnosis were 2-16 (1 case unknown) and 13-33 years old, respectively.Myasthenia was present in 9 patients, especially in distal ends.Eight patients were complicated with neuromyotonia, nine patients with muscle atrophy, seven patients with foot deformity, and two patients with sensory disturbance.Creatine kinase(CK) was elevated in all 9 patients tested or CK.EMG showed neurogenic injuries in all patients and neuromyotonia discharge in six patients.Three patients were treated with Carbamazepine, and some symptoms were relieved.Missense/nonsense mutations were found in the 12 patients, and the high-frequency variation was c. 112T>C (p.C38R). Conclusions:ARAN-NM is a rare autosomal recessive neuromuscular disease caused by HINT1 gene mutation.There is no ethnic difference in clinical manifestations, mainly distal limb weakness with neuromyotonia.Carbamazepine can alleviate some symptoms, and orthopaedic surgery can improve foot deformity and gait.