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Objective:To analyze the clinical characteristics of a case of CNNM2 gene heterozygous mutation causing hypomagnesemia epilepsy mental retardation (HOMGSMR1) [MIM: 616418] in a child, and explore the association between genotype and phenotype.Methods:We followed up and retrospectively analyzed the clinical characteristics of a case of HOMGSMR1 caused by CNNM2 gene heterozygous mutation treated at Maternal and Child Health Care Hospital of Liuyang. Through whole exome sequencing of the family and bioinformatics analysis of the original data, we consulted databases and literature materials such as Online Mendelian Inheritance in Man (OMIM), ClinVar, gnomAD, GeneReviews, Pubmed, and China National Knowledge Infrastructure (CNKI), The American College of Medical Genetics and Genomics (ACMG) guidelines were used to rate heterozygous deletion mutations in the locked CNNM2 gene.Results:Patient, male, 3 months and 18 days old, mother gave birth to 1 child with 1 pregnancy, recurrent convulsions for more than 10 days, and multiple tests showed that blood magnesium levels were below normal, fluctuating between 0.51-0.55 mmol/L; After oral administration of " oxcarbazepine" and " magnesium sulfate", convulsions improved and blood magnesium concentration increased, but remained below normal, with the highest being 0.61 mmol/L. The sequencing results of the whole exome display of the family showed that the child carried a heterozygous deletion mutation in the exon region of the CNNM2 gene (c.838_843delATGGCCp. M280-A281del), which was not detected in their parents, indicating a new mutation. The large-scale population frequency database gnomAD did not include this mutation, and no literature reported this mutation. According to the ACMG guidelines, it was rated as a suspected pathogenic variant. The pathogenic variation of this gene can lead to autosomal dominant HOMGSMR1, which was consistent with genetic patterns.Conclusions:CNNM2 gene c. 838_ 843delATGGCC (p.M280_A281del) is a suspected pathogenic variant in this patient, with genotype and phenotype matching and heterozygous mutations following genetic patterns. Autosomal dominant inheritance is the molecular cause of clinical manifestations in this patient, and it is an unreported novel mutation.
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Objective:To investigate the clinical characteristics of different gestational ages in neonatal pneumothorax and the influencing factors of adverse outcomes.Methods:Newborns with pneumothorax hospitalized in the neonatal intensive care unit, the division of neonatology of Shengjing hospital, China Medical University from Jan.2012 to Dec.2018 were included.Babies were divided into both premature group and full-term group according to gestational age(GA), and survival group and death group according to the outcomes.Multivariate logistic regression analysis was used to explore the influencing factors of death from pneumothorax in neonates.Results:150 children were included, of them 101 males, 49 females(2.06: 1), 103 outborn(68.7%)and 123 unilateral pneumothorax(82.0%). The overall mortality was 9.3%(14/150). There were 60 premature infants with gestational age(GA)28~36w and birth weight(BW)624~4 000 g, 5(8.3% in the premature group)died, and the other 90 were full-term infants with GA37~42w, BW2 650~4 700 g, 9(10.0% in the fullterm group)died.The rates of premature rupture of membranes(26.7%), resuscitation(26.7%), pulmonary surfactant(PS)(30.0%)and mechanical ventilation before pneumothorax(56.7%)in the preterm group were significantly higher than that in the term group(12.2%, 13.3%, 3.3% and 26.7%, P<0.05). Premature rupture of membranes more than 24 h( OR=1.230, 95% CI 3.800~3.940, P<0.05), mechanical ventilation( OR=2.491, 95% CI 1.322~4.694, P<0.05)and pulmonary hemorrhage( OR=36.846, 95% CI 5.840~232.462, P<0.05)were independently influencing factors of mortality.Apgar scores≥7 at one minute( OR=0.157, 95% CI 0.032~0.761, P<0.05)decreased the mortality. Conclusion:The majority of neonatal pneumothorax occurs within 48 h of birth and most are unilateral.The pneumothorax in preterm was mostly resulted from perinatal factors.Some factors are associated with the increasing of mortality.
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Safety hospital centralized monitoring is one of the important methods for evaluating the medication safety of TCM injections in clinic.It is critical to warrant research quality by reasonable statistical analysis.However,universally accepted standards and guidelines for the statistical analysis of hospital centralized monitoring of TCM injections have not been issued so far,which would probably reduce the research quality of safety hospital centralized monitoring of TCM injections since the unreasonable use of statistical analysis methods.Combined with previous practical experience and understanding,we put forward the problems of statistical analysis of hospital centralized monitoring of TCM injections with the provision of some advice in this paper based on the analysis of the preceding studies,laying a foundation for the same kind of researches.
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The safety of TCM injection triggered attentions and hotspots in recent years in China.The centralized monitoring of TCM injection provided important evidence for analyzing the safety risk of TCM injections,recognizing adverse reactions and contraindications and perfecting the instructions.This study aimed at exploring the ethical problems on centralized monitoring.In this paper,we retrieved and screened the ethical issues of TCM injections over hospital centralized monitoring in China National Knowledge Infrastructure (CNKI,1979-Ju1.,2016).Issues over it were put forward and addressed.It is found that the current ethical issues related to hospital centralized monitoring lacks sufficient attentions,corresponding norms and requirements.Based on the ethical issues reflected from the literatures,suggestions should be pressed ahead with the ethical review of centralized surveillance,signing of informed consents,registration of research programs,data statistics and reporting stages,for the better protection of the rights and interests of subjects and improvement of research quality.
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Objective:To efficiently amplify NK cells and determine their cytotoxic activity against a variety of tumor cell lines in vitro,thereby providing evidence for potential clinical application.Methods: PBMCs were isolated from adult peripheral blood and co-cultured with K562 cells that were genetically modified to express 4-1BBL,IL-15 and IL-21 on the surface for 15 days to effectively amplify NK cells.The total cell number and Purity of CD3-CD56+ cells were measured.Granzyme B and perforin expression of the amplified NK cells were detected by flow cytometry and real-time PCR.The anti-tumor effect on different cancer cells was evaluated.Results: This method obtained a more than 1.1×1010 CD3-CD56+ NK cells with 95% purity over a 15 day amplification procedure.The expanded NK cells could efficiently release granzyme B and Perforin.The cytotoxicity against different tumor cells was followed the order from strong to weak:gastric,pancreatic,cervical,ovarian and renal cancer cells,with the highest activity against gastric cancer cell line A549 (90% at E∶T=10∶1) (P<0.05).A time-dependent killing effect of activated NK cells on cervical,liver and pancreatic cancer cells was observed.Conclusion: This amplification procedure can consistently generate large amounts of pure NK cells with effective cytotoxic function against a variety of tumor cells.
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The launch of the clinical trial registry is a milestone event in the field of clinical research in the 21st century that has played an important role in safeguarding the openness,transparency,ethics,data sharing and process control of clinical research.The current clinical research registry is mainly aimed at clinical trial research with lack of professional registration system for security and other real events of observational study.In order to improve the level of clinical safety research,promote transparency and process quality control,we proactively proposed and established a registration platform for clinical safety research of traditional Chinese medicine.This paper made a brief introduction hereof.
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According to the related requirements of safety reevaluation of TCM injections,hospital centralized monitoring of the safety of TCM injection was consecutively pressed ahead.Centralized security monitoring was a large-scale real world research involving numerous data acquisition,transmission,verification and analysis.The quality of data acquisition and data verification directly affected the authenticity and reliability of research data and results.Therefore,data management played a significant role in the safety monitoring of TCM injections.Based on the analysis of previous researches,this paper discussed the implementation content,links and the frequent problems and corresponding solutions of data management during the safety monitoring of TCM injections,combining with the experience in the implementation of projects.
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Safety is a critical link restricting the development of TCM injections.Hospital centralized monitoring is of importance in the safety evaluation of TCM injections.However,the results of centralized monitoring studies usually deviated from the actual situation because of problems in design and process quality.Our research team have completed several projects over centralized monitoring in recent years.Based on the previous research experience,this paper mainly discussed the current statuation,the significance and methods for standard process of hospital centralized monitoring in regard to TCM injections,in order to improve the quality of centralized monitoring studies and provide technique support for recognizing the safety of TCM injections.
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The implementation process management plays a important role for the quality of centralized safety monitoring study of post-marketing Chinese medical injections.One of the critical link is hospital.Currently,there is no principle or specification for hospital choosing,number of monitoring points,data collection responsible part and forms of data collection as well.These issues caused uneven quality,huge differences in results and questioned conclusion.Based on the previous research experience,this paper focused on discussing the link of hospital where research data may be influenced,and proposed some suggestions.
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At present,the various levels of safety evaluations of traditional Chinese medical (TCM) injections were in force in post-marketing clinical researches,while the process quality is guaranteed with difficulty.Therefore,it is requisite to call for technical guidance.By drawing lessons from the international experience of drug marketing safety evaluation and the related methods,we proposed the key techniques of quality control for clinical safety evaluation of TCM injections from the three aspects:preparation,implementation and summarization of researches,combining with the characteristics of TCM injections.The key techniques contained some scientific problems,ethics,publicity,data management,statistical analysis,specification report,etc.This paper comprehensively introduced the requisite technologies and methods over research quality,laying a foundation for the studies of post-marketing clinical safety evaluation of TCM injections.
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Objective To compare the application of debridement combined with vacuum sealing drainage (VSD) versus debridement combined with conventional dressing change in patients with subscalp infection following surgical treatment of traumatic brain injury (TBI) and investigate the effect of VSD in treatment of wound infection associated with surgery for TBI.Methods A retrospective review was conducted on clinical data of 60 TBI patients with combined wound infection after decompressive craniotomy between August 2005 and January 2012.According to the treatment modalities after admission,the patients were divided into debridement combined with VSD group (Group A) and debridement combined with conventional dressing change group (Group B),with 30 patients per group.Then wound healing,infection relapse rate and length of hospital stay were compared between the two groups.Results All 60 patients were followed up for 12-36 months (mean 21.6 months).The wound infection did not recur after surgery in Group A and sutures were removed in time.Seven patients (23％) in Group B presented with recurrent wound infection after the removal of wound drainage tube,which was healed after an additional debridement and drainage as well as the delay of suture removal.Wound healing time (13 d vs 22 d),dressing change frequency (3 times vs 8 times),length of hospital stay (17 d vs 26 d),antibiotic use duration (7 d vs 14 d),and time to drop the body temperature to normal after operation (2 d vs 4 d) in Group A and B respectively showed significant difference (P ＜ 0.05).Conclusion In treatment of wound infection associated with decompressive craniotomy for TBI,VSD is beneficial for rapid healing of the infected wound and is worthy of wide clinical use.
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@#ObjectiveTo observe the effect of the doctor-led telephone interview on the state of anxiety for outpatients with epilepsy.Methods100 outpatients with epilepsy and state of anxiety were divided into two groups: intervention group (doctor-led telephone interview) and control group (outpatient face-to-face visit in the epileptic clinic), 50 cases in each group. Doctor-let semi-structured telephone interview was performed in the intervention group, while routine face-to-face interview in outpatient was performed in the control group for 6 months. Self-rating Anxiety Scale (SAS) was used to assess the anxiety state before and 6 months after intervention. The state of anxiety and the patients' contents in the two groups were analyzed.ResultsThe scores of SAS in two group decreased 6 months after intervention and the intervention group was better than the control group.ConclusionThe doctor-led telephone interview can improve the state of anxiety for the patients with epilepsy.
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Objective:To study the validity of MMPI in police recruitment.Methods:9096 police applicants had been tested with MMPI from 1989 to 2004.Results:1694 male applicants were not accepted, they got higher MMPI(Chinese version) T-scores on scale Hs(61.9?10.0/45.4?6.6,t=8.76), Pa (61.6?12.7/46.6?8.1,t=5.85), Pt (58.7?10.1/43.3?7.6,t=6.45), Sc (65.4?7.8/44.6?6.6,t=11.46), and Ma, so did the female ones on scale Pt (60.9?3.7/42.2?8.2 ,t=3.79), Sc (68.9?3.0/45.2?8.2,t=4.96), and Ma (63.5?4.1/50.1?9.2, t=2.48). After a 16-year follow up, the results showed that in the group enrolled, none had suffered mental illness. 43 out of 70 applicants who were not accepted during 1989 to 1990 were investigated. Two of them had been sent to psychiatric hospital for schizophrenia.Conclusion:Result of MMPI is valuable in police recruitment.
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Objective To determine the validation of measuring blood flow velocity intravascularly using a new Doppler microprobe. Methods Catheterization and signal recording were investigated using a new 0.3 mm diameter microprobe in 40 patients during routine cerebral angiography (45 vessels). Blood flow velocity was determined using this technique (intravascualar Doppler sonography, IVDS) in another 14 patients with femoral-popliteal stenosis before and after percutaneous transluminal angioplasty (PTA). Results IVDS was successful in 95.6% healthy vessels (43/45) and recorded the same typical flow-pulse curve as seen in transcutaneous measurement. Measurement of blood flow velocity was successful in 12 out of 14 patients (86%) with femoral-popliteal stenosis before and after PTA. IVDS could verify that blood flow velocity increased significantly after successful PTA (t= 4.01, P
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AIM: To evaluate the clinical efficacy and safety of Qili Qiangxin Capsule(Radix Astragali,Radix Aconiti lateralis praeparata,Radix et Rhizoma Salviae miltiorrhizae,Radix et Rhizoma Ginseng,Semen Lepidii,Semen Descurainiae,Flos Carthami,Pericarpium Citri reticulatae,Rhizoma Alismatis,Cortex Periplocae,Rhizoma Polygonati odorati,Ramulus Cinnamomi) with chronic heart failure(CHF).METHODS: Seven randomized controlled trials were reviewed.RESULTS: The meta-analysis indicated that the treatment group of Qili Qiangxin Capsule could decrease the cardiac functional grading of NYHA with 1.21 of the relative risk,and 95% confidence interval(CI) from 1.08 to 1.36;increase 6 minute walking distance with the weighted mean difference(WMD) was 37.39,and 95% confidence interval was from 22.58 to 52.20;raise left ventricular ejection fraction(WMD = 3.97[2.09,5.85]),decrease the left ventricular end-diastolic diameter(WMD = 2.81[1.41,4.22]),lower the level of B-type natriuretic peptide(WMD = 118.00[4.44,231.56]) and N-terminal pro-brain natriuretic peptide(WMD = 476.90[371.26,582.54]) in blood plasma and drop the score of Minnesota living with heart failure questionnaire(WMD =8.00[3.48,12.52]),but Qili Qiangxin Capsule for reduction in left ventricular end-diastolic volume,left ventricular end-systolic volume,heart rate and blood pressure also need to be confirmed.Besides,individual ca-ses occurred adverse reactions like dry cough,epigastric discomfort,gastric distention.However,It could be tolerated and hadn't significant statistical difference with comparison to control group.CONCLUSION: Qili Qiangxin Capsule is effective and safe for the patients of chronic heart failure in improving the heart function and living quality.