Application of miniprobe endoscopic ultrasound in endoscopic surgery of small-diameter and low-grade rectum neuroendocrine neoplasm / 局解手术学杂志

Objective To evaluate the value of miniprobe endoscopic ultrasound(EUS)in guiding endoscopic treatment of small-diameter(maximum diameter less than 1 cm)and low-grade(G1 grade)rectum neuroendocrine neoplasm(R-NEN),and to provide evidence and clues for its clinical application and further research.Methods The clinical data of 85 cases of low-grade(G1 grade)R-NEN with a maximum diameter of less than 1 cm who underwent endoscopic treatment in our center from January 2014 to December 2020 were retrospectively analyzed.The patients were divided into the EUS group(37 cases)and control group(48 cases)according to whether EUS was performed before endoscopic treatment.The positive rate of incision margin,the incidence of complications,the recurrence rate,the hospital stay,the cost of hospitalization and endoscopic therapy were compared between the two groups.Results The positive rate of incision margin in the EUS group was significantly lower than that in control group(P<0.05).There was no significant difference in the incidence of complications,tumor recurrence rate,hospital stay or hospital costs between the two groups(P>0.05).There was statistically significant difference in the endoscopic therapy between the two groups(P<0.05).Conclusion Evaluating the lesion depth of small-diameter and low-grade(G1 grade)R-NEN before surgery by miniprobe EUS and selecting endoscopic surgery according to its results of can significantly reduce the residual risk of resection margin tumors.

Research progress of tunneling nanotube in bone biology / 中华口腔医学杂志

Tunneling nanotube (TNT) is a newly discovered communication mode between animal cells in recent years, which have important physiological and pathological significance. However, the role of TNT in bone biology is still unclear. At present, there are many reports about tunneling nanotubes in bone marrow mesenchymal stem cells, osteoclast precursor cells, osteoblasts and immune cells. This review describes the research advances of TNT and its research progress in bone biology. It looks forward to the research direction of TNT in oral and maxillofacial bone development and bone biology, to provide new strategies for the maintenance of bone homeostasis and the treatment of bone diseases.

Regulation of Glial Function by Noncoding RNA in Central Nervous System Disease / 神经科学通报·英文版

Non-coding RNAs (ncRNAs) are a class of functional RNAs that play critical roles in different diseases. NcRNAs include microRNAs, long ncRNAs, and circular RNAs. They are highly expressed in the brain and are involved in the regulation of physiological and pathophysiological processes of central nervous system (CNS) diseases. Mounting evidence indicates that ncRNAs play key roles in CNS diseases. Further elucidating the mechanisms of ncRNA underlying the process of regulating glial function that may lead to the identification of novel therapeutic targets for CNS diseases.

Role of E2F1 and lncRNAs in the development of malignant tumors / 国际肿瘤学杂志

E2F1, a nucleoprotein gene belongs to transcription factor, is closely associated with the development of malignant tumours. Long non-coding RNAs (lncRNAs) are aberrantly expressed in a variety of tumors. In studies of molecular mechanisms associated with lncRNAs and tumours, E2F1 has been identified as a key factor that can play a critical role as an upstream regulator or downstream target of lncRNAs, and even inter-regulate to form a positive feedback loop. This paper reviews the significance of the interaction between E2F1 and lncRNA in malignant tumors in recent years, and aims to provide ideas for the study of tumor mechanisms.

Genetic testing and prenatal diagnosis of 64 pedigrees with autosomal dominant polycystic kidney disease / 中华肾脏病杂志

Objective:To detect and analyze the gene variation types of 64 unrelated pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD), and explore the detection efficiency of multiple gene analysis techniques and variation characteristics.Methods:It was a cross-sectional study. The clinical data of 64 pedigrees with ADPKD from Nephrology Department or Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from December 2017 to August 2020 were retrospectively analyzed. The blood samples of probands and other family members were collected. Genetic analysis was carried out by next generation sequencing, and suspected mutations were verified by multiplex ligation-dependent probe amplification, or long-range PCR combined with Sanger sequencing. Prenatal diagnosis for high-risk fetuses was performed by fetal villi or amniotic fluid cells after genotyping without maternal genomic DNA contamination.Results:Among detected 64 pedigrees, 57 pedigrees (89.06%) had genetic variants in PKD1/PKD2. A total of 49 pathogenic/likely pathogenic variants in PKD1/PKD2 were identified in 51 pedigrees (79.69%), including 14 nonsense variants (28.57%), 14 frameshift variants (28.57%), 11 missense variants (22.45%), 5 splicing variants (10.20%) and 5 deletion variants (10.20%). Of these variants, 87.76% (43/49) were in PKD1 and 12.24% (6/49) were in PKD2. Totally, 14 novel variants in PKD1/ PKD2 were identified, including 7 frameshift variants, 3 splicing variants, 2 nonsense variants, 1 deletion variant and 1 missense variant, of which 11 variants were in PKD1 and 3 variants were in PKD2. Twenty high-risk fetuses from 17 pedigrees received prenatal diagnosis, in whom 6 fetuses had PKD1 variation, and other 14 fetuses had no PKD1/ PKD2-genetic variation. Conclusions:The combination of next-generation sequencing, multiplex ligation-dependent probe amplification, and long-range PCR combined with Sanger sequencing can be helpful for rapid, efficient and accurate genetic diagnosis of ADPKD pedigrees. Point mutations are the most common types in PKD1/PKD2. Fourteen novel variants in PKD1/PKD2 extend its pathogenic variant spectrum and can provide basis for genetic counseling and prenatal diagnosis of ADPKD pedigrees.

Impact of intraoperative ligation of splenic artery on prognosis of liver transplantation on patients with severe hypersplenism / 中华肝胆外科杂志

Objective:To study the impact of simultaneous ligation of splenic artery on prognosis of patients with severe hypersplenism in liver transplantation.Methods:A retrospective analysis was performed on the clinical data of 206 patients who underwent liver transplantation in the Fifth Medical Center of PLA General Hospital from December 2016 to February 2019. There were 180 males and 26 females, aged (51.0±9.0) years old. Fifty-one patients underwent splenic artery ligation during liver transplantation and they were enrolled into the observation group, and 155 patients without splenic artery ligation were enrolled into the control group. The changes in white blood cells (WBC), platelets, alanine aminotransferase, total bilirubin and serum creatinine as well as the incidence of postoperative complications were compared between the two groups.Results:The platelet count of the observation group was significantly lower than those of the control group before operation and on days 1, 3, 7, 30 and 90 after operation, (all P<0.05). The WBC counts in the observation group were significantly lower than those in the control group before operation and on days 1 and 3 after operation (all P<0.05). However, there were no significant differences in the WBC counts between the two groups on days 5, 7, 30 and 90 after operation (all P>0.05). There were also no significant differences in alanine aminotransferase and total bilirubin indexes between the two groups after surgery (all P>0.05), but the serum creatinine levels in the observation group were significantly lower than those in the control group on days 3, 5, 7 and 30 after surgery (all P<0.05). There were no significant differences in the rates of infection, severe acute rejection, biliary tract complications, arterial/portal thrombosis and mental complications between the two groups (all P>0.05). The rate of renal replacement therapy for acute kidney injury in the observation group (9.8%, 5/55) was significantly higher than that in the control group (1.3%, 2/155) ( P<0.05). Conclusion:Ligation of splenic artery during liver transplantation was safe and it had a significant advantage in the early postoperative recovery of WBC count and creatinine without increasing the incidence of complications in patients with severe hypersplenism.

Dilemma, causes and countermeasures of global health governance: taking COVID-19 Vaccines Global Access Facility as an example / 中华流行病学杂志

The pandemic of COVID-19 threatens the health and safety of the people all over the world. COVID-19 vaccine is the key public product to establish population immune barrier and achieve the global contain of the pandemic. The World Health Organization, the Global Alliance for Vaccines and Immunization and the Coalition for Epidemic Preparedness Innovations established COVID-19 Vaccines Global Access Facility (COVAX) in 2020, aiming to enable the fair access to COVID-19 vaccine by all countries in the world, especially the low- and middle-income countries. Although COVAX has facilitated the production and research of COVID-19 vaccine by coordinating the global supply chain, the implementation of COVAX is still facing many difficulties in financing, implementation and the awareness of public, revealing the problems of global health governance. Taking COVAX as an example, this paper analyzes the difficulties faced by global health governance and explore the underlying causes, so as to suggest feasible short and long-term paths for China's participation in global governance.

Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region / 北京大学学报(医学版)

OBJECTIVE@#To compare the clinicopathologic features and prognosis of the different types of fibrous dysplasia (FD) of cranio-maxillofacial region, so as to provide a new reference for clinicians to treat these patients and make prognostic judgement.@*METHODS@#Clinical records, radiographic data and pathological information of 105 patients diagnosed with FD or McCune-Albright syndrome (MAS) at the Department of Oral Pathology, Peking University Hospital of Stomatology from January 2013 to December 2020 were collected. The patients were divided into 4 groups: monostotic FDs, polyostotic FDs, MAS and a specific type called craniofacial fibrous dysplasia (CFD) limited in the craniofacial region. The clinicopathological characteristics, treatment and follow-up data of each type were analyzed.@*RESULTS@#Of all the 105 patients, 46 were males and 59 were females, with a male-to-female ratio of 1 ∶1.3. The onset age ranged from 0 to 56 years and the median age was 12 years. On the basis of different involvement conditions, 4 types were divided. The most common type was monostotic FDs (43 cases, 40.95%), including maxilla (29 cases), mandibular (12 cases) and zygoma (2 cases). 32 cases (30.48%) were diagnosed with polyostotic FDs, 7 cases (6.67%) were MAS, and 23 cases (21.90%) were CFDs confirmed by computed tomography (CT) analysis. CFD was clearly distinct from other types of FD, such as the patient gender and the serum alkaline phosphatase level in peripheral blood before operative surgery. The pathologic findings of various types FD were quite similar, whilst the predominant fibrous tissue hyperplasia could be observed in polyostotic FDs and MAS types.@*CONCLUSION@#The clinicopathologic features of FD in the cranio-maxillofacial region are different from the FD lesions in other parts of the body. The clinicopathological features of CFD are significantly different from those of monostotic and polyostotic FDs in the cranio-maxillofacial region. Therefore, the clinicians should pay attention to distinguish CFD in clinic, imaging and pathology aspects, so as to further clarify its features in clinic management and prognosis.

DYNC2H1 gene mutation analysis and prenatal diagnosis in two pedigrees affected with short rib-polydactyly syndrome type Ⅲ / 中华围产医学杂志

Objective:To investigate the molecular genetic etiology of two fetuses with short rib-polydactyly syndrome type Ⅲ (SRPS Ⅲ).Methods:Next-generation sequencing (NGS) was used to detect 226 known genes related to inherited skeletal dysplasia in two fetuses with SRPS Ⅲ diagnosed in the First Affiliated Hospital of Zhengzhou University in August 2015 and June 2020. Suspect pathological variants were verified in the pedigree members using Sanger sequencing. The prenatal genetic diagnosis of the high-risk fetus in pedigree one was conducted to identify the confirmed pathogenic variation.Results:The homozygous mutation of DYNC2H1 gene c.5881A>G(p.Lys1961Glu) was identified in the proband in pedigree one, and the parents were the carriers. The proband in pedigree two carried compound heterozygous mutations in the DYNC2H1 gene with c.10606C>T(p.Arg3536*) inherited from the father and c.8954T>G(p.Val2985Gly) from the mother. Autosomal recessive inheritance was confirmed in both pedigrees. Mutations of c.5881A>G(p.Lys1961Glu) and c.8954T>G(p.Val2985Gly) in the DYNC2H1 gene were likely pathogenic variants and had not been reported before. The prenatal diagnosis did not identify the DYNC2H1 gene c.5881A>G(p.Lys1961Glu) mutation in the fetus (Ⅱ-7) in pedigree one, which was confirmed by the umbilical cord blood sample after birth. Conclusion:DYNC2H1 gene mutation underlies the fetal skeletal dysplasia in the two pedigrees.

WHO global strategy on digital health and its implications to China / 中华预防医学杂志

The World Health Organization (WHO) released the global strategy report on digital health (2020-2025) in Geneva in 2019, which established the priority of the digital health strategy and formulated strategic objectives, guiding principles, action framework and implementation plans to promote the development of global digital health, and to achieve universal health coverage and the health-related sustainable development goals. Despite China's rapid development in the field of digital health, there is still a big gap between the realization of the goal of digital health. Therefore, it is urgent to grasp the major historical opportunity and step into a new era of digital health with the support of digital technology platform.

Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring congenital insensitivity to pain (CIP).@*METHODS@#Targeted capture and next generation sequencing (NGS) was carried out for the proband. Suspected pathogenic variants were confirmed by Sanger sequencing of the proband and his parents.@*RESULTS@#The proband was found to harbor compound heterozygous variants of SCN9A gene, namely c.1598delA (p.N533Ifs*31) and c.295_296delCGinsAT (p.R99I), which were respectively inherited from his father and mother. Both variants were predicted to be pathogenic, and neither was reported previously.@*CONCLUSION@#The compound heterozygous variants of the SCN9A gene probably underlay the CIP in this child. Above finding has enabled genetic counseling for this family.

Current advances in understanding neuroprotective effect of acteoside in neurodegenerative disease / 中国药理学通报

Acteoside is among the most widespread of thedisaccharide caffeoyl esters that are widely distributed in the plant kingdom with diverse biological activities. Recent studies have shown that acteoside has neuroprotective activity in neurodegenerative diseases. This review examines and extrapolates from the recent literature to build support for the use of acteoside in mitigating neuropathy in neurodegenerative disease, including Parkinson ' s disease (PD) and Alzheimer' s disease (AD). We summarize the main pharmacokinetic parameters of acteoside in animals after different administration routes. Meanwhile, we point out both problems and shortcomings, and highlight its future development trend.

Genetic analysis results and ultrasonographic markers in 41 fetuses with short femurs / 中华围产医学杂志

Objective:To analyze the genetic test results and ultrasonographic markers of 41 fetuses with short femurs and their relationship.Methods:This study retrospectively analyzed 41 fetuses who were diagnosed with short femurs by ultrasound during 19-37 gestational weeks and underwent prenatal genetic examination at the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2019. According to the results of genetic examination, these cases were divided into three groups after excluding three cases of variants of unknown significance: genetically normal group, chromosome variation (including chromosomal aneuploidy and pathogenic or likely pathogenic copy number variations) group, and gene mutation (including pathogenic or likely pathogenic gene mutations) group. According to the head circumference (HC), abdominal circumference (AC) and femur length (FL), Z FL, FL/HC, FL/AC, ΔZ H-F and ΔZ H+A-2F for each fetus were calculated. One-way ANOVA and LSD- t test were used for statistical analysis. Results:(1) Among the 41 fetuses with short femurs, there were 28 in the genetically normal group, five in the chromosome variation group, three with chromosome variations of unknown significance and five in the gene mutation group. (2) In the genetically normal, chromosome variation and gene mutation groups, Z FL values were -2.78±0.77, -4.36±0.69 and -4.69±0.70; FL/HC ratios were 0.178±0.011, 0.170±0.010 and 0.131±0.022; FL/AC ratios were 0.197±0.013, 0.186±0.011 and 0.151±0.017; ΔZ H-F values were 2.49±1.09, 3.53±1.28 and 8.17±1.30; ΔZ H+A-2F values were 4.44±2.00, 6.78±2.20 and 14.28±1.26, respectively. The differences in Z FL values between the genetically normal group and the chromosome variation group as well as the gene mutation group were statistically significant (both P<0.05); so were the differences in FL/HC, FL/AC and ΔZ H-F values between the gene mutation group and the genetically normal group as well as the chromosome variation group (all P<0.05) and in any pairwise comparison of ΔZ H+A-2F among the three groups (all P<0.05). Conclusions:The genetic etiology of fetal short femurs is mainly related to chromosomal variations (including chromosomal aneuploidy and pathogenic or likely pathogenic copy number variations) and gene mutation. In fetuses with chromosome variation and gene mutation, the degree of the femoral development delay relative to the development of HC and AC is worse than that in the normal genetic results group.

Cupping treatment combined with antibiotics for bacterial pneumonia in children: a randomized controlled trial / 中国针灸

OBJECTIVE@#To compare the clinical efficacy of cupping treatment combined with antibiotics and antibiotics alone for bacterial pneumonia in children.@*METHODS@#A total of 72 children with bacterial pneumonia were randomly divided into an observation group (36 cases, 1 case dropped off) and a control group (36 cases). The children in the control group were treated with intravenous drip of cefodizine sodium [80 mg/(kg•d)] for 7 days. Based on the treatment of the control group, the children in the observation group were treated with cupping treatment on the bladder meridian of the back on the first day and the fourth day of antibiotic treatment; each cupping treatment was given for 5-10 min; the treatment of observation group was given for 7 days. The days for complete fever reduction, TCM syndrome scores and Canadian acute respiratory illness flu scale (CARIFS) scores before and after treatment were observed, and the clinical efficacy was evaluated.@*RESULTS@#The days for complete fever reduction in the observation group were shorter than that in the control group (@*CONCLUSION@#Cupping treatment combined with antibiotics has similar efficacy with antibiotics alone for bacterial pneumonia in children, but shows better effect in shortening the duration of fever and improving pulmonary symptoms.

Clinicopathological analysis of 844 cases of odontogenic keratocysts / 北京大学学报(医学版)

OBJECTIVE@#To investigate the clinicopathologic features and prognostic factors in odontogenic keratocyst (OKC), and to provide new reference for clinic treatment and management of these patients.@*METHODS@#Clinicopathological data of 844 cases initially diagnosed as or associated with OKC at Department of Oral Pathology, Peking University Hospital of Stomatology from 2000 to 2018 were collected. The cases were divided into 4 groups: sporadic OKCs (intraosseous, cystic lesion irrelevant to nevoid basal cell carcinoma syndrome), syndromic OKCs, solid OKCs and peripheral OKCs. The patients were follow-up for 6 to 216 months and the factors that might relate to recurrence were analyzed.@*RESULTS@#There were 805 cases (95.4%) of sporadic OKCs, 32 cases (3.8%) of syndromic OKCs, 3 cases of solid OKCs and 4 cases of peripheral OKCs. The main age of sporadic OKCs was 36.03 years with the peak at the second and third decades. Ratio of male and female was 1.27:1. The predilection site was the molar and ramus area of mandibular (56.2%). In the study, 428 cases (71.2%) were unilocular in radiography while 28.8% were multilocular. The recurrent rate of enucleation with the follow-up was 20.1% (118/588) while most of them occurred in 1-3 years after surgery. The recurrent rate of multilocular patients (39.0%) was significantly higher than that of the unilocular. Enucleation after marsupialization (43 cases) or enucleation only (545 cases) showed no difference in recurrence (P>0.05). The syndromic OKCs was younger (main 20.97) and preferred to be multiple compared with sporadic OKCs (30/32, 93.7%). The predilection site was also molar and ramus area of mandibular (41.7%). Age and gender distribution of multiple cases had no significant difference with those in sporadic OKCs. More daughter cysts and epithelial islands were seen (56.3% and 17.9%). Furthermore, the recurrent rate was significantly higher than that of the sporadic OKCs (13/29, 44.9%). But there was no evidence of recurrent-related factors. The age of solid and peripheral OKCs, averaged at 45.00 and 65.75 years, were older than others. Four of peripheral OKCs showed no recurrence after enucleation.@*CONCLUSION@#The recurrence rate of sporadic OKCs after enucleation is 20.1%. The multilocular lesions prefer to be recurrent. There is no significant difference of recurrence with enucleation only or enucleation after marsupialization. Compared with sporadic OKCs, the syndromic patients are younger and easier to be multiple. It tends to be recurrent frequently and rapidly. There are no related factors about recurrence of syndromic patients. The clinicians should considerate comprehensively and make an individual management of therapy and follow-up. Solid and peripheral OKCs are rare and older.

Ancient Literatures of Classical Famous Prescription Dihuang Yinzi / 中国实验方剂学杂志

Classical famous prescription Dihuang Yinzi is widely used in modern clinical practice，and can treat many kinds of diseases，especially the diseases of nervous system in internal medicine. Its clinical effect is accurate，but it has not been converted into Chinese patent medicine preparations. Therefore，the authors have collected ancient traditional Chinese medicine（TCM） literatures of Dihuang Yinzi by the methods of bibliometrics，and selected and sorted out 254 pieces of effective data， involving 144 ancient books of TCM，and systematically summarized and analyzed the historical development origin，main treatment syndrome，formula making principle，dosage，preparation method，decoction method and medicine taking method of Dihuang Yinzi，in order to provide the ancient literary evidence support for the development and clinical application of classic famous prescriptions. It is found that Dihuang Yinzi was from Xuanming Lunfang written by LIU He-jian，a doctor of Jin dynasty. It was composed of 12 kinds of herbs，namely Rehmanniae Radix Praeparata，Morindae Officinalis Radix，Corni Fructus，Cistanches Herba，Dendrobii Caulis，Aconm Lateralis Radix Praeparaia，Schisandrae Chinensis Fructus，Cinnamomi Ramulus，Poria，maimendong，Acori Calami Rhizoma and Polygalae Radix, and mainly used for the treatment of Yinfei. The later records of Dihuang Yinzi mostly followed the prescription composition and main treatment set forth in Xuanming Lunfang，and its clinical application was expanded. In the 199 articles with the indications for disease treatment，Yinfei was the most commonest indication, and took up about half of the total，which was followed by stroke，taking up about two fifths of the total. It was also used for the treatment of sudden aphonia，flaccidity syndrome，vertigo，enuresis. Dihuang Yinzi has a wide range of treatment，but the pathogenes is always belongs to "the deficiency of water and fire in the kidney". The recipe of Dihuang Yinzi was unique，and can be used to treat both the upper and lower parts of the body，as well as both the outward symptoms and root causes of an illness at the same time， in particular，it mainly focuses on the treatment of the lower and the root. Among the 56 literatures with drug dosage records，about one third of them inherited the records of Xuanming Lunfang: "Equal division，the top is the end，3 qian for each dose." The dosage was generally light. The preparations are mostly decoction and boiled powder. In the decocting and taking methods，it was suggested that "turbid medicine shall be boiled for a short time，and taken after several boilings，with no limit to time."

Progress on clinical trials of cancer drugs in China, 2019 / 中华肿瘤杂志

Objective@#To deliver macro understanding of the latest research progress on clinical trials and approved products of cancer drugs in China in 2019.@*Methods@#The number of clinical trials and related investigational products by domestic and foreign enterprises in 2019 were acquired in the China Food and Drug Administration Registration and Information Disclosure Platform for Drug Clinical Studies, while listed drugs were obtained in the China Food and Drug Administration Query System for Domestic and Imported Drug. Characteristics on stage, scope, indication of those trials, classification and mechanism of involved products, as well as listed anticancer drugs were summarized and depicted.@*Results@#There were 474 cancer drug trials registered in China in 2019, accounting for 21.8% of the total, and 397 (83.8%) were initiated by domestic pharmaceutical enterprises. Overall, international multicenter trials accounted for 13.1%, and phase I trials accounted for 47.3%. Compared with global enterprises, the proportion of international multi-center trials initiated by domestic companies is lower (4.8% vs. 55.8%, P<0.001), and the proportion of phase I clinical trials and bioequivalence trials is higher (51.9% vs. 23.4%, 19.4% vs. 1.3%, P<0.001). An accumulative of 27 cancer types were involved for all the cancer drug trials, and lung cancer, solid tumor, and breast cancer were the most common cancer types, with 103, 95 and 49 trials, respectively. For the three cancer types unique to Chinese population, gastric, liver and esophageal cancer, the total number of initiated trials was 47. For all those trials, there were 335 cancer drug varieties, with 86.0% developed by domestic pharmaceutical enterprises, including 300 therapeutic drugs, 30 adjunctive drugs and 5 preventive drugs. In terms of mechanism, targeted drugs and immune drugs were the most popular, accounting for 74.6% and 20.3%, respectively. In addition, 17 anticancer drugs targeting on 11 cancer types were approved in China in 2019.@*Conclusions@#Clinical trials on cancer drugs in China have ushered a booming era, with large number of innovative agents represented by targeted drugs and immune drugs under clinical development or putting into clinical practice. Those local enterprises are playing more and more critical roles. Strengthening clinical research and development on Chinese unique cancer types is the key direction of future work.

Acceptance and Related Causes of Clinical Trials among Cancer Patients in China / 中国肺癌杂志

BACKGROUND@#The clinical trials of new anti-tumor drugs are prospering in China. The acceptance of clinical trials in patients is an important factor affecting the speed and quality of clinical trials. Previous studies have investigated the acceptance of clinical trials in those cancer patients, who have never participated in a trial. This study is designed to investigate and compare the acceptance and related causes of clinical trials in cancer patients who have once participated in a clinical trial or not.@*METHODS@#From June 2018 to April 2019, a standardized questionnaire-based survey was conducted among two groups of cancer patients classified by history of clinical trial participation in Cancer hospital, Chinese Academy of Medical Science, mainly focusing on their overall acceptance of clinical trials and related considerations, including the role of attending doctors, as well as group differences between the two participants.@*RESULTS@#A total of 538 patients were enrolled with an average age of 53.5 years old, 51.1% of whom were males, and 43.3% of whom have never participated in a clinical trial. Overall, 502 patients (93.3%) were willing to or recommend their relatives or friends to participate in clinical trials, and patients with history of clinical trial participation had higher willingness (96.6% vs 90.8%, P=0.008). Patients were most likely to be motivated by expectation of optimal treatment (100.0% vs 99.3%) for both those who had once participated in a clinical trial or those not, respectively followed by financial burden reduction (56.0%) and recommendation by attending doctor (43.7%). The main reasons for unwillingness-to-participate for those who had once participated in a clinical trial were abandoning other treatment options, divided into control group or additional visits, while for those who had never participated in a clinical trial, ineffective treatment or serious adverse reactions were their main concerns. In the decision-making of clinical trial participation, 88% patients highly valued the role of recommendation by attending doctors. Among patients without trial participation history, 60.9% of those had no unwillingness-to-participate expressed that recommendation by attending doctors would change their decisions. The study also reported patients' preferences for information and access to clinical trials.@*CONCLUSIONS@#The acceptance of clinical trials in cancer patients in our hospital is generally high, especially in patients who had a history of trial participation. It's of substantial significance to give full play to the role of doctors in improving the acceptance of clinical trials of cancer patients in China.

Awareness and Influencing Factors of Clinical Trial Among Cancer Patients in China / 中国肺癌杂志

BACKGROUND@#Early investigation suggested patients' level of awareness regarding clinical trials was related with willingness to participation. This study was intended to evaluate the level of awareness of cancer patients regarding clinical trials and related influencing factors, and to compare the differences of awareness between patients who attended clinical trials before and not.@*METHODS@#From Jun, 2018 to April, 2019, standardized question-naires were gathered from cancer patients (attended clinical trials vs not attended clinical trials) in our hospital regarding basic information and 10 other questions about awareness. The level of awareness was evaluated and patients were classified into "low cognition" and "high cognition" groups. Logistic regression analysis was performed to determine whether certain characteristics would predict for awareness.@*RESULTS@#Of the 617 participants, 38.6% have attended clinical trials before. 338 (54.6%) patients had a correct overall understanding of clinical trials, while 44 (7.1%) patients still thought participants were the victim of scientific research. Except for the compensation of medical expenses (51.5% vs 48.7%) and related laws of clinical trials (52.3% vs 45.5%), other parts of understanding were elevated in patients attended clinical trials before comparing with patients who didn't, including significance (86.2% vs 77.6%), risk disclosure (91.2% vs 71.6%), confidentiality (73.2% vs 59.7%), voluntariness (95.8% vs 76.3%), withdrawal (86.6% vs 68.2%) and expenses (62.8% vs 39.2%). The proportion of participants who understand these components did not increase even in 239 patients who had attended clinical trials before. Participants who attended clinical trials before (OR=1.83, 95%CI: 1.11-3.00), unmarried/divorced (OR=5.04, 95%CI: 1.73-14.66), retired (OR=2.53, 95%CI: 1.16-5.50) had a higher level of awareness, while patients who had bad impression with doctors (OR=0.43, 95%CI: 0.26-0.72) had lower awareness.@*CONCLUSIONS@#The current level of awareness for clinical trials of cancer patients in our hospital was relatively low, even in patients who had attended clinical trials before. It's necessary to improve patients' awareness of clinical trial by promoting harmony relationship between patients and doctors, as well as by enhancing related propagation. Strengthening the adequacy and efficacy of informed consent in clinical trials also needs to be achieved in the future.

Different clinical phenotypes and genetic characteristics of five patients with DiGeorge syndrome / 中华内分泌代谢杂志

Objective:To identify the clinical phenotypes, diagnosis, and treatment of five children with DiGeorge syndrome finally diagnosed by gene, with review of the literature.Methods:The clinical data of five children with DiGeorge syndrome admitted to our hospital were collected and sorted out. Copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technology was used to diagnose the genetic etiology of the children. The relationship between phenotypes and genotype among these five children were emphatically compared.Results:The five children collected in this study were all younger than 6 months. The course of the disease was more than 2 months to 1 year. Most of the first symptoms were convulsions and/or repeated infection. All of them had different degrees of growth retardation, with or without special facial features, epilepsy, congenital heart disease, etc. The similar blood ionized calcium levels revealed hypocalcemia, but the frequency and severity of convulsions were different. The copy number variation of chromosome 22q11.21 was detected in all these five children, and the deletion fragment was between 2.56-2.6 Mb, which was mostly coincident with the classical deletion region of DiGeorge syndrome (chr22: 19009792-21452445) recorded in Decipher database. One case was suggested to be a novel mutation, and the rest were of unknown origin.Conclusions:DiGeorge syndrome has great clinical heterogeneity. CNV-seq based on NGS technology is not only conducive to accurate genetic etiological diagnosis, but also helpful for understanding the corresponding relationship between clinical phenotype and genotype of hereditary syndrome, improving clinicians′ understanding and avoiding misdiagnosis.