1.Genetic analyzing for a Chinese intellectual disability pedigree with ARX gene mutation
Lina CUI ; Shuwen XIN ; Aolong YUAN ; Jingshang LYU ; Rongxiang LI ; Shaozhe YANG ; Jing XU ; Xuna XING ; Yaya YANG ; Jiajia YANG ; Xiuhong FU
Chinese Journal of Laboratory Medicine 2021;44(3):228-232
Objective:To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with intellectual disability.Methods:The proband with intellectual disability was diagnosed at Luohe Central Hospital in December 2019. Peripheral blood samples were collected from four family members. Whole exome sequencing (WES) was used to screen the pathological mutations. Then the PCR and Sanger sequencing were used to verify the selected mutations and combine the relevant database to analyze variation loci.Results:We infer that the ARX c.1162 A>G was co-segregated with the phenotype of the family based on the results of WES. The results of sanger sequencing and WES are consistent. The mother of the proband is the carrier of the mutation. There is no mutation frequency reported in the healthy population. The mutation of the ARX c.1162A>G is harmful inferred by a variety of bioinformatics software. Combined with the phenotypic analysis of OMIM database, we infer the phenotype caused by the mutation is consistent with the patients in the family.Conclusion:The mutation of the ARX c.1162 A>G may be the cause of the intellectual disability in the family affected. And the variant has not been reported in China.
2.Study on network pharmacology of Polygalae Radix- Acori Tatarinowii Rhizoma medicinal pair for depression and Alzheimer disease with the same treatment
Tanrong JIA ; Jiajia WANG ; Xing WANG ; Juncen LIU ; Yinying BA
International Journal of Traditional Chinese Medicine 2023;45(9):1144-1150
Objective:To explore the molecular mechanism of Polygalae Radix - Acori Tatarinowii Rhizoma medicinal pair for depression and Alzheimer disease (AD) with the same treatment through network pharmacology. Methods:Effective components of Polygalae Radix - Acori Tatarinowii Rhizoma medicinal pair were retrieved from TCMSP, TCMID and ETCM databases. The disease targets of depression and AD were retrieved from GeneCards, TTD and CTD databases. Targets of action of drugs on active components were predicted through SwissTargetPrediction, and then the intersection targets of medicinal pair and the diseases were taken. Cytoscape 3.6.1 was used to construct the interaction network of Polygalae Radix - Acori Tatarinowii Rhizoma medicinal pair on "component-common target-disease". The enrichment analysis of GO function and KEGG pathway was carried out with the help of Metascape platform, and molecular docking verification was carried out. Results:Through searching the databases and literature, 78 compounds in Polygalae Radix - Acori Tatarinowii Rhizoma medicinal pair were obtained, corresponding to 41 targets of different diseases with the same treatment. The GO function was mainly concentrated in response to lipopolysaccharide and cellular response to nitrogen compound. The KEGG pathway was mainly concentrated in lipid and atherosclerosis, calcium signaling pathway, serotonergic synapse, insulin resistance and so on. The core targets were PTGS2, ESR2, etc. Molecular docking showed that most of the core components could form stable conformation with the core targets. Conclusions:Polygalae Radix - Acori Tatarinowii Rhizoma medicinal pair has the characteristics of multi-component, multi-target and multi-pathway in the same treatment of depression and AD. Through their core components of senegenin, 1-carbobutoxy-β-carboline, 6-hydroxy-1,2,3,7-tetramethoxyxanthone, kaempferol and etc., the pair can act on PTGS2 and other targets, regulate lipid and atherosclerosis, calcium signaling pathway, serotonergic synapse, insulin resistance and so on, and play a therapeutic role in depression and Alzheimer's disease with the same treatment.
3.Clinical analysis of twin-to-twin transfusion syndrome combined with necrotizing enterocolitis
Jiajia DUAN ; Ming NIU ; Jingyue XING ; Shujin LI ; Falin XU
Chinese Pediatric Emergency Medicine 2022;29(7):519-524
Objective:To investigate clinical characteristics and high-risk factors of prognosis of twin-to-twin transfusion syndrome(TTTS) combined with necrotizing enterocolitis(NEC).Methods:The clinical data of 102 children with TTTS admitted to the NICU at the Third Affiliated Hospital of Zhengzhou University from January 2017 to January 2020 were collected.Fifty-one pairs(102 cases)of twins without TTTS who were hospitalized at the same time and in the same gestational age were selected as the control group, and the relevant case data were collected and compared.The clinical data of 14 children with NEC in TTTS group were analyzed retrospectively.Results:(1)The average gestational age of TTTS group was(32.24±2.12)weeks, and that was (32.47±1.84) weeks in control group, with no statistical significance( P>0.05). The average birth weight of TTTS group was(1 547.63±523.80)g, which was lower than that of control group(1 658.71±454.13)g( P<0.05). There were 14 children in TTTS group with NEC, with an incidence of 13.7%(14/102), and seven children in the control group with NEC, with an incidence of 6.9%(7/102)( P<0.05). The proportion of very low birth weight infants, NEC occurrence within 2 weeks and mortality in TTTS group were higher than those in control group( P<0.05). (2)Compared with the non-NEC group, the NEC group of TTTS children had lower birth weight, the incidence of intrauterine distress and severe postnatal asphyxia, and the rate of sepsis were significantly higher than those in non-NEC group( P<0.05). (3)Among TTTS children, NEC was diagnosed in ten donors(71.4%) and four recipients(28.6%), with statistically significant difference between two groups( P<0.05). (4)The early clinical symptoms of TTTS complicated with NEC were mainly bloody stools, abdominal distension, poor response, apnea, and vomiting. Conclusion:TTTS is one of the risk factors for NEC, which the occurrence time of TTTS combined with NEC is not completely consistent with the classic NEC, which is more likely to occur within 2 weeks after birth.Children with TTTS complicated with NEC mostly occur in donor infants, and fetal distress in utero, severe asphyxia and sepsis are the high risk factors.The early clinical symptoms of TTTS combined with NEC are not significantly different from those of common NEC, mainly including bloody stools, abdominal diste, poor response, apnea, and vomiting.Vigilance should be raised when similar digestive symptoms appear in children.
4.Web Resources for Stem Cell Research
Wei TING ; Peng XING ; Ye LILI ; Wang JIAJIA ; Song FUHAI ; Bai ZHOUXIAN ; Han GUANGCHUN ; Ji FENGMIN ; Lei HONGXING
Genomics, Proteomics & Bioinformatics 2015;(1):40-45
In this short review, we have presented a brief overview on major web resources relevant to stem cell research. To facilitate more efficient use of these resources, we have provided a pre-liminary rating based on our own user experience of the overall quality for each resource. We plan to update the information on an annual basis.
5.Consistency study on reports of stomach neoplasm chemotherapy-related adverse reactions reported by different people
Junxia WANG ; Yuhua ZHAO ; Yingying LI ; Jiajia XING ; Dongyan LI
Chinese Journal of Modern Nursing 2020;26(13):1773-1778
Objective:To investigate the consistency of reports of adverse reactions to chemotherapy in patients with stomach neoplasms, main caregivers and nursing records.Methods:By convenient sampling method, a total of 102 pairs of patients who underwent radical gastrectomy and received chemotherapy in the First Affiliated Hospital of Zhengzhou University from June 2018 to June 2019 and their main caregivers were selected. After the second and fourth cycles of chemotherapy, the incidence of adverse reactions to chemotherapy in patients was collected from records patients themselves, main caregivers and nursing staff, and the severity of adverse reactions was assessed using the Chinese version of M.D. Anderson Symptom Inventory (MDASI) . At the same time, Kappa test was used to analyze the consistency of reports of patients, their main caregivers and nursing staff to the 13 adverse reactions of chemotherapy in the scale.Results:After the second chemotherapy cycle, except for the two adverse reactions of fatigue and distress, the severity of other adverse reactions reported by the patients was not statistically significantly different compared with the records of the main caregivers and nursing staff ( P>0.05) . The incidence of fatigue, distress, sleep disturbance, nausea and dry mouth reported by the patients was higher than that recorded by the primary caregivers and nursing staff, and the differences were statistically significant ( P<0.05) . The patients showed good consistency with main caregivers in 10 aspects such as appetite loss, shortness of breath, sleep disturbance, vomiting, pain, nausea, dry mouth, drowsiness, forgetfulness and numbness ( P<0.05) . The patients showed good consistency with the nursing staff in 9 aspects such as appetite loss, shortness of breath, vomiting, pain, nausea, dry mouth, lethargy, forgetfulness and numbness ( P<0.05) . The main caregivers showed good consistency with the nursing staff in 10 aspects such as appetite loss, distress, shortness of breath, vomiting, pain, nausea, dry mouth, lethargy, forgetfulness and numbness ( P<0.05) . After the fourth chemotherapy cycle, the self-reported severities of fatigue, distress, sleep disturbance and sadness of patients were higher than those recorded by the main caregivers and nursing staff, and the differences were statistically significant ( P<0.05) . The incidence of fatigue, distress, sleep disturbance, sadness and dry mouth reported by patients were higher than those recorded by the main caregivers and nursing staff, and the differences were statistically significant ( P<0.05) . The patients showed good consistency with the primary caregivers in 8 aspects such as appetite loss, shortness of breath, vomiting, pain, nausea, dry mouth, forgetfulness and numbness ( P<0.05) , and they showed good consistency with the nursing staff in 7 aspects such as appetite loss, vomiting, pain, nausea, dry mouth, forgetfulness and numbness ( P<0.05) . The primary caregivers showed good consistency with the caregivers in 8 aspects such as appetite loss, sleep disturbance, vomiting, pain, nausea, dry mouth, forgetfulness and numbness ( P<0.05) . Conclusions:Nursing staff and the main caregivers of patients underestimate the incidence and severity of chemotherapy-related adverse reactions in patients with stomach neoplasms. Simple nursing records cannot accurately reflect the patients' chemotherapy symptoms, so self-reports of patients should be considered as one of the reference data.
6.Effects of Xiaopi Yishen herbal extract granules in treatment of fatigue-predominant subhealth due to liver-qi stagnation and spleen-qi deficiency: a prospective, randomized, placebo-controlled and double-blind clinical trial.
Tianfang WANG ; Xiaolin XUE ; Yajing ZHANG ; Ping HAN ; Zhen LI ; Wenping WANG ; Jianmin XING ; Qingbo WANG ; Yu TANG ; Li LI ; Jiajia WANG ; Guanru LI ; Shaoliang JI ; Liuxin WU ; Yan ZHAO ; Xiuyan WU ; Runshuan ZHAO
Journal of Integrative Medicine 2011;9(5):515-524
Background: The demand for effective intervention for subhealth conditions is growing with increasing numbers of people being in a state of subhealth with a poor quality of life. Future research and evaluation of the treatment methods for subhealth conditions from the perspective of traditional Chinese medicine (TCM) may provide an important direction for developing effective management of these conditions. Objective: To evaluate the efficacy and safety of Xiaopi Yishen herbal extract granules (XPYS-HEG), a compound traditional Chinese herbal medicine for relieving fatigue and promoting a cheerful spirit for the treatment of people with fatigue-predominant subhealth due to liver-qi stagnation and spleen-qi deficiency. Design, setting participants and interventions: A multi-center, randomized, double-blinded, placebo-controlled clinical study was undertaken. The study period was 18 weeks, including 6 weeks for intervention and 12 weeks for follow-up. Participants were recruited from medical center and outpatient clinics of three hospitals in China, i.e. Xiaotangshan Hospital of Beijing, the First Affiliated Hospital of Henan University of TCM and the Affiliated Hospital of Liaoning University of TCM. Two hundred participants who met the criteria of fatigue-predominant subhealth and liver-qi stagnation and spleen-qi deficiency in TCM were allocated randomly to the treatment group (XPYS, n=100) and control group (placebo, n=100). Main outcome measures: The total score of Fatigue Scale-14 (FS-14) was used to evaluate the fatigue status of subjects and the extent of liver-qi stagnation and spleen-qi deficiency syndrome was also recorded. Results: Three cases in the XPYS group withdrew from the trial. There were 200 subjects who entered to full analysis set (FAS) analysis and 197 subjects fitted in the per-protocol set (PPS) analysis. (1) According to the score changes of FS-14, the effectiveness rates in the XPYS and placebo group were as follows: 14.0% vs 9.0% (FAS) and 14.4% vs 9.0% (PPS) for complete remission, 19.0% vs 15.0% (FAS) and 19.6% vs 15.0% (PPS) for obvious effects, 39.0% vs 26.0% (FAS) and 39.2% vs 26.0% (PPS) for effective, and 72.0% vs 50.0% (FAS) and 73.2% vs 50.0% (PPS) for complete efficacy. The efficacy of XPYS-HEG was superior to the placebo statistically (P<0.05). (2) According to the score changes of TCM syndrome, the effectiveness rates in the XPYS group and placebo group were as follows: 1.0% vs 0.0% (FAS) and 1.0% vs 0.0% (PPS) for complete remission, 20.0% vs 7.0% (FAS) and 19.6% vs 7.0% (PPS) for obvious effects, 29.0% vs 24.0% (FAS) and 29.9% vs 24.0% (PPS) for effective, and 50.0% vs 31.0% (FAS) and 50.5% vs 31.0% (PPS) for complete efficacy. The efficacy of XPYS-HEG was superior to that of placebo statistically (P<0.05). (3) The follow-up results at 12 weeks and 18 weeks showed that the efficacy of XPYS-HEG was superior to that of placebo statistically (P<0.05). (4) No adverse effects were found in the XPYS group. Conclusion: It can be concluded that XPYS-HEG is effective and safe for the treatment of people with fatigue-predominant subhealth due to liver-qi stagnation and spleen-qi deficiency.
7.Clinical features and prognosis of 44 neonates with ovarian cysts
Jiajia DUAN ; Huiqing CHENG ; Li ZHANG ; Hongwei HUANG ; Jingyue XING ; Falin XU
Chinese Journal of Neonatology 2023;38(4):220-224
Objective:To study the clinical characteristics and imaging features of neonatal ovarian cysts and to analyze treatment and prognosis of ovarian torsion.Methods:From January 2011 to December 2021,neonates with ovarian cysts admitted to the department of neonatology and pediatric surgery of our hospital were retrospectively studied. They were assigned into ovarian torsion group and non-torsion group. Their clinical manifestations, imaging features, pathological results, treatment and prognosis were reviewed and compared.Results:A total of 44 neonates with ovarian cysts were included, all without specific clinical manifestations. 10 neonates were treated with conservative therapy and 34 received surgery. Ovarian torsion were confirmed during surgery in 23 patients. All 34 patients received abdominal ultrasound preoperatively and 31 (91.2%, 31/34) were diagnosed with ovarian cysts. The accuracy rates of ultrasound for cyst location and ovarian torsion were 85.3% (29/34) and 82.6% (19/23),respectively. 30 patients received abdominal CT scan and 23 (76.7%, 23/30) were diagnosed with ovarian cysts. The accuracy rates of CT scan for cyst location and ovarian torsion were 53.3% (16/30) and 47.8% (11/23), respectively. Among the 34 patients treated with surgery, ovarian cyst dissection was performed in 11 patients and cyst resection in 23 patients with torsion necrosis. 24 patients had simple cysts including 15 torsion necrosis (62.5%, 15/24) and 10 had complicated cysts including 8 torsion necrosis(80.0%, 8/10). The average diameter of ovarian cysts was significantly larger in the torsion group [(8.4±1.6) cm] than the non-torsion group [(4.7±1.2) cm] ( P<0.05). Conclusions:Neonatal ovarian cysts are mostly unilateral without specific clinical manifestations. Large, bilateral and complex cysts are prone to torsion necrosis. Abdomen ultrasound has advantages than CT scan for the localization of the ovarian cyst and diagnosis of ovarian torsion. Surgical treatment is necessary after diagnosis.
8.Early coagulation function changes of penetrating intestinal firearm injury of pigs in high-altitude environment
Jiu SUN ; Xue YANG ; Jinquan QU ; Xinyue YANG ; Caifu SHEN ; Jiajia LI ; Yanchao XING ; Jiangwei LIU
Chinese Journal of Trauma 2024;40(3):257-265
Objective:To explore the early coagulation function changes of penetrating intestinal firearm injury of pig in high-altitude environments.Methods:Twenty healthy long white piglets were selected and divided into the plain group and the high-altitude group using the random number table method, with 10 pigs in each group. Pigs in the plain group were placed in a plain environment at an altitude of 800 meters, while pigs in the high-altitude group were placed in an experimental chamber simulating an altitude of 6 000 meters for 48 hours. Both groups received pistol gunshot to have firearm penetrating wounds to the abdominal intestinal tract and then returned to the plain observation room. At 0, 2, 4, 8, 12 and 24 hours after injury, coagulation in the peripheral blood and fibrinolytic indexes [prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), fibrinogen (Fbg), D-dimer (D-D), and fibrinogen degradation product (FDP)], thromboelastogram (TEG) [reaction time (R), clotting time (K), clot formation rate (α), maximum amplitude (MA) and coagulation composite index (CI) ], platelet parameters [platelet count (PLT), mean platelet volume (MPV), platelet distribution width (PDW), and platelet-large cell ratio (P-LCR)] in the two groups were detected separately.Results:The PT values at 0 and 2 hours after injury in the high-altitude group were significantly lower than those in the plain group, while they were significantly higher at 8, 12 and 24 hours than those in the plain group ( P<0.01); there was no significant difference at 4 hours between the two groups ( P>0.05). The APTT values at 0, 2 and 4 hours after injury in the high-altitude group were significantly lower than those in the plain group, while they were significantly higher at 8, 12 and 24 hours after injury than those in the plain group ( P<0.01). The TT values at 0, 2 and 4 hours after the injury in the high-altitude group were significantly lower than those in the plain group, while they were significantly higher at 12 and 24 hours after injury than those in the plain group ( P<0.01); there was no significant difference at 8 hours after injury between the two groups ( P>0.05). The Fbg, D-D and FDP values at 0, 2, 4, 8, 12 and 24 hours after injury were higher in the high-altitude group than those in the plain group ( P<0.01). The R values at 0, 2 and 4 hours after injury in the high-altitude group were significantly lower than those in the plain group, while they were significantly higher at 8, 12 and 24 hours after injury than those in the plain group ( P<0.01). The K values at 0, 2, 4 and 8 hours after injury in the high-altitude group were significantly lower than those in the plain group, while they were significantly higher at 12 and 24 hours after injury than those in the plain group ( P<0.05 or 0.01). The α angles at 0, 2 and 4 hours after injury in the high-altitude group were significantly higher than those in the plain group, while they were significantly lower at 8, 12 and 24 hours after injury than those in the plain group ( P<0.01). The MA values at 0, 2 and 4 hours after the injury in the high-altitude group were significantly higher than those in the plain group, while they were significantly lower at 8, 12 and 24 hours after injury than those in the plain group ( P<0.01). The CI values at 0, 2 and 4 hours after injury in the high-altitude group were significantly higher than those in the plain group, while they were significantly lower at 8, 12 and 24 hours after injury than those in the plain group ( P<0.01). The PLT values at 0, 2, 4 and 8 hours after injury in the high-altitude group were significantly higher than those in the plain group, while they were significantly lower at 12 and 24 hours after injury than those in the plain group ( P<0.05 or 0.01). The MPV values at 0, 2, 4, 8, 12 and 24 hours after injury in the high-altitude group were significantly higher than those in the plain group ( P<0.01). The PDW values at 2, 4, 8, 12 and 24 hours after injury in the high-altitude group were significantly higher than those in the plain group ( P<0.05 or 0.01), while there was no significant difference in PDW at 0 hour after injury between the two groups ( P>0.05). The P-LCR values at 0, 2, 4, 8, 12 and 24 hours after injury in the high-altitude group were all significantly higher than those in the plain group ( P<0.01). Conclusion:Compared with the plain environments, pig intestinal firearm penetrating injury in the high-altitude environments is more prone to early hypercoagulable state accompanied by mild hyperfibrinolysis, and faster to reach a hypocoagulable state accompanied by obvious hyperfibrinolysis.
9.The status and its influencing factors of tissue silence of nurses in 3 Grade A general hospitals
Ni XIAO ; Xuan ZHAO ; Jiajia MA ; Yifan QI ; Minna WANG ; Xin XING ; Yongxing WU ; Litao GUO
Modern Clinical Nursing 2024;23(7):17-23
Objective To investigate the status quo and its influencing factors of nurses'organizational silence in 3 Grade A general hospitals.Methods Convenient sampling method was used to investigate clinical nurses in 3 Grade A general hospitals in Xi'an from April to August 2023 by general data questionnaire,nurses'organizational silence questionnaire and hospital magnetic factor scale.Multiple linear regression was used to analyze the influencing factors of organizational silence.Results A total of 855 nurses completed the study.The total silence score of nurses was(56.33±8.55);The total score of hospital magnetic level was(107.63±12.85).There was a negative correlation between nurse tissue silence and hospital magnetic level(r=-0.318,P<0.01).Hospital magnetic level,age,job title and working time were the influential factors of nurses'organizational silence(all P<0.001),which together explained 62.60%of the variation.Conclusions The silence of nurses'tissue and the level of hospital magnetism are in the low-medium level.Nurses are younger in age,lower in professional title,shorter in nursing age and lower in hospital magnetism level,the higher the tissue age level is,the nursing managers can reduce the tissue silence of nurses by improving the hospital magnetism level.
10.Efficacy and Safety of Pulse Magnetic Therapy System in Insomnia Disorder: A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial
Jiwu LIAO ; Sisi WANG ; Borong ZHOU ; Wei LIANG ; Ping MA ; Min LIN ; Weisen LIN ; Congrui LI ; Xiaotao ZHANG ; Hongyao LI ; Yin CUI ; Jiajia HU ; Yuanyi QIN ; Yanhua DENG ; Aibing FU ; Tianhua ZHU ; Shanlian ZHANG ; Yunhong QU ; Lu XING ; Wumei LI ; Fei FENG ; Xinping YAO ; Guimei ZHANG ; Jiyang PAN
Psychiatry Investigation 2023;20(6):559-566
Objective:
This study’s objective is to assess the efficacy and safety of Pulsed Magnetic Therapy System (PMTS) in improving insomnia disorder.
Methods:
Participants with insomnia disorder were randomly assigned to receive either PMTS or sham treatment for four weeks (n= 153; PMTS: 76, sham: 77). Primary outcomes are the Insomnia Severity Index (ISI) scores at week 0 (baseline), 1, 2, 3, 4 (treatment), and 5 (follow-up). Secondary outcomes are the Pittsburgh Sleep Quality Index at baseline and week 4, and weekly sleep diary-derived values for sleep latency, sleep efficiency, real sleep time, waking after sleep onset, and sleep duration.
Results:
The ISI scores of the PMTS group and the sham group were 7.13±0.50, 11.07±0.51 at week 4, respectively. There was a significant group×time interaction for ISI (F3.214, 485.271=24.25, p<0.001, ηp 2=0.138). Only the PMTS group experienced continuous improvement throughout the study; in contrast, the sham group only experienced a modest improvement after the first week of therapy. At the end of the treatment and one week after it, the response of the PMTS group were 69.7% (95% confidence interval [CI]: 58.6%–79.0%), 75.0% (95% CI: 64.1%–83.4%), respectively, which were higher than the response of the sham group (p<0.001). For each of the secondary outcomes, similar group×time interactions were discovered. The effects of the treatment persisted for at least a week.
Conclusion
PMTS is safe and effective in improving insomnia disorders.