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Trauma has the characteristics of complex disease, high disability rate and fatality rate, which adds difficulty to treatment. Due to the limitation of medical conditions and untimely allocation of resources, the current trauma treatment modes still have shortcomings such as low first aid efficiency and irregular application, and hence the treatment is facing enormous challenges. In the process of trauma treatment, a large amount of dynamic data that are valuable for disease diagnosis and treatment will be generated. Big data and artificial intelligence technology is an algorithm that can reasonably predict or estimate the given data based on large-scale data collection, and has been applied to trauma treatment modes. The efficient and accurate statistical analysis of big data and innovative medical technology directions such as machine learning, planning and decision-making not only improve the efficiency and safety of trauma treatment, but also reduce the workload of clinicians, making up for the shortcomings of traditional trauma treatment modes. The authors mainly review the application of big data and artificial intelligence technology in pre-hospital first aid and in-hospital diagnosis and treatment for trauma patients, in order to provide a reference for trauma treatment.
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The incidence of in-hospital death in acute myocardial infarction (AMI) is high, which seriously threatens the life and health of patients. At present, many countries and regions have established a variety of objective assessment models for predicting the in-hospital mortality of patients with AMI, providing important decision-making support for patients with different risk levels when formulating treatment plans. With the rise of artificial intelligence, many new modeling methods also show certain advantages over the traditional models. This article systematically introduces the commonly used and newly constructed risk prediction models for in-hospital mortality of AMI, in order to provide help for medical staff to assist decision-making in clinical practice, and provide reference for the establishment of a safe and more effective risk prediction model in the future.
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Objective:To investigate the efficacy and safety of hydromorphone for postoperative analgesia in children with congenital heart disease, and provide a suitable reference dose for postoperative analgesia in children.Methods:Using a prospective study, 157 patients with congenital heart disease(ASA Ⅱ- Ⅳ) admitted to pediatric intensive care unit at Children′s Hospital of Chongqing Medical University from November 2019 to November 2021 were randomly divided into five groups.Low-dose hydromorphone group (H1 group, 30 cases): hydromorphone dose ≥2 and <3 μg/(kg·h), hydromorphone medium-dose group (H2 group, 30 cases): hydromorphone dose ≥3 and <4 μg/(kg·h), high-dose hydromorphone group (H3 group, 31 cases): hydromorphone dose ≥4 and ≤5 μg/(kg·h), sufentanil group (S group, 36 cases): the dose of sufentanil was 0.08 μg/(kg·h), morphine group (M group, 30 cases): the dose of morphine was 20 μg/(kg·h). The five groups of children received midazolam 2 μg/(kg·min) intravenously at the same time as sedative therapy.Pain score and sedation score were scored at 1 h, 4 h, 8 h, 12 h, and 24 h after operation.Heart rate, mean arterial pressure, blood glucose, lactate, and serum cortisol levels were also monitored and detected, and the occurrence of adverse reactions, the number of cases requiring additional analgesic and sedative drugs, as well as the duration of mechanical ventilation were compared.Results:(1) There were no significant differences regarding the age, body weight, cardiopulmonary bypass time, pediatric critical illness score and ASA score among five groups (all P>0.05). (2) There was no significant difference in the levels of respiration, heart rate, blood sugar, lactate and serum cortisol among five groups after operation.There was no significant difference in preoperative mean arterial pressure among the groups, but there was significant difference in the postoperative mean arterial pressure among the groups at 4 h and 8 h( P<0.05). (3) The analgesic satisfaction of H1 group, H2 group and H3 group at 1 h, 4 h, 12 h and 24 h after operation was significantly higher than that in M group ( P<0.05). There was no significant difference in analgesic satisfaction among H1 group, H2 group and H3 group at each time point.(4) The sedation satisfaction of H1 group, H2 group and H3 group at 4 h and 24 h after operation was significantly higher than that in M group ( P<0.05). There was no significant difference in sedation satisfaction among H1 group, H2 group and H3 group at each time point.(5) There was no significant difference in postoperative analgesia satisfaction and sedation satisfaction between H1 group, H2 group, H3 group and S group.(6) Children in H1 group[1(0, 2)], H2 group[1(0, 2)], H3 group[1(0, 2)] had fewer additional doses within 24 hours than that in M group[2(2, 3)]( P<0.05), and fewer children in H1 group, H2 group and H3 group had been given analgesic sedatives than that in M group ( P<0.05); The extubation time was shortest in H2 group and S group[H2 group(88.3±2.9) h, S group(85.9±3.0) h]. (7) There were no adverse reactions in H1 group, H2 group, H3 group and S group, and there were two cases of apnea in M group. Conclusion:The analgesic effect of hydromorphone in children with congenital heart disease after surgery is better than that of morphine, and the effect of hydromorphone is comparable to that of sufentanil.Hydromorphone 3-4 μg/(kg·h)+ midazolam 2 μg/(kg·min) can achieve satisfactory analgesic and sedative effects in children after congenital heart surgery, with few adverse reactions, safe and reliable, which is an excellent choice for postoperative analgesia and sedation in children.
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Prone position ventilation(PPV) is an effective treatment for moderate to severe pediatric acute respiratory distress syndrome(PARDS) and should be used in the early stage. PPV can improve oxygenation and reduce mortality.However, at present, the rate of application of PPV in moderate to severe PARDS is still low, which may be related to the insufficient understanding of its therapeutic effect and the lack of trained and skilled staff.Prone operation requires the coordinated efforts of doctors and nurses.Three to five medical personnel are required to participate in this routine operation, and the endotracheal tube and various invasive tubes must be carefully fixed.The safety of children during the prone operation should be guaranteed, and the extubation, migration or kinking of invasive pipelines must be avoided.Children receiving extracorporeal membrane oxygenation can be ventilated in prone position, but additional operators are required during prone operation.Medical staff should receive training related to the prone operation, master the contraindications of PPV, and avoid related complications.After the outbreak of COVID-19, the application of PPV has gradually increased.The key research progress of PPV in acute respiratory distress syndrome mostly comes from the adult field.More clinical studies should be carried out on the use of PPV in pediatrics in the future, so as to better treat PARDS.
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Objective:To study the risk factors of acute kidney injury in patients with diabetic nephropathy and the prognostic value of urinary neutrophil gelatinase associated lipocalin (NGAL) .Methods:The data of 80 patients with diabetic nephropathy in the First Hospital of Shanxi Medical University from Mar. 2016 to Dec. 2020 were retrospectively studied. According to the random selection of numbers + artificial arrangement, they were divided into observation group and control group according to the presence or absence of acute kidney injury (AKI) . The observation group included patients with diabetic nephropathy complicated by acute kidney injury, and the control group included patients with diabetic nephropathy. The urinary albumin/creatinine ratio (ACR) , blood routine, left ventricular ejection fraction (LVEF) , NGAL, etc. were compared between the two groups. The correlation and influencing factors of acute kidney injury in patients with diabetic nephropathy and age, eGFR, severe infection, antibiotics, heart failure, respiratory failure, ACR, LVEF, and NGAL were studied. At the same time, the prognostic value of urinary NGAL was analyzed.Results:Single factor screening: There was no significant difference in gender or body weight between the two groups ( P>0.05) . However, there were differences in age, epidermal growth factor receptor (eGFR) , severe infection, antibiotics, heart failure, respiratory failure, ACR, LVEF, and NGAL ( P<0.05) . Correlation: Acute kidney injury in patients with diabetic nephropathy was very weakly correlated with gender, age, and body weight, moderately correlated with eGFR, heart failure, respiratory failure, ACR, and LVEF, and highly correlated with NGAL, severe infection, and antibiotics. Risk factors: The independent risk factors for acute kidney injury in patients with diabetic nephropathy included severe infection, eGFR, antibiotics, ACR, LVEF, and NGAL. The prognostic value of urinary NGAL: AUC=0.967, standard error 0.021, Youden index 0.967, sensitivity 0.967, specificity 1, and zero cutoff point 30.00. Conclusion:The main influencing factors of DN complicated with AKI are severe infection, eGFR, antibiotics, ACR, LVEF, NGAL, and urinary NGAL has prognostic value for DN complicated with AKI, and it is worthy of clinical application.
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Objective:Rapid assessment of the outcome after percutaneous coronary intervention (PCI) in patients with acute coronary syndrome (ACS) is an important clinical issue. In this study, an electrocardiogram (ECG) analysis method based on dynamic learning was proposed.Methods:A total of 203 patients with ACS after successful PCI were enrolled for prospective analysis at the Emergency Department of Qilu Hospital of Shandong University from April 2019 to December 2020. All patients were divided into group without ≥70% postoperative stenosis ( n=72) and group with ≥ 70% postoperative stenosis ( n=131) according to the presence of 70% or more stenosis after PCI. The clinical data of ACS patients were collected and analyzed by χ2 test, t-test, or Mann-Whitney test. ECGs were recorded before and 2 h after PCI, and were dynamically analyzed to generate cardiodynamicsgram (CDG) using dynamic learning. In the group without ≥ 70% postoperative stenosis, the model and CDG index for evaluating myocardial ischemia were obtained by training support vector machine (SVM) using 10 times 10-fold cross-validation. Results:There was no significant difference in clinical data between the two groups. The prediction accuracy and sensitivity of the support vector machine model for myocardial ischemia in group without≥70% postoperative stenosis were 73.61%, and 84.72% respectively. CDG transformed from disorderly to regular after PCI, and CDG index decreased significantly ( P<0.001): 90.28% (65) patients in group without≥70% postoperative stenosis, and 79.39% (104) patients in group with≥70% postoperative stenosis had lower CDG indexes than before PCI. Conclusions:In this study, CDG obtained by dynamic learning can intuitively and effectively evaluate the changes of myocardial ischemia before and after PCI, which is helpful to assist clinicians to formulate the next treatment plan.
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Almost 50% myelodysplastic syndromes (MDS) patients have different splicing factor mutations, including SF3B1, SRSF2, U2AF1. Different splicing factor mutations cause the various mechanisms of slicing abnormality and eventually lead to the similar MDS phenotypes, indicating that splicing factor mutations might generate the common pathopoiesia pathway different from slicing abnormality. Recent studies have shown that SF3B1, U2AF1 and SRSF2 mutations could contribute to the accumulation of R-loop, cause DNA damage and repair abnormality, activate ATR-Chk1 pathway and finally promote apoptosis and tumorigenesis. This paper reviews the role of R-loop in the pathogenesis of MDS and the progress of related targeted drugs.
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Objective To establish a high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method for simultaneous determination of sodium valproate and vancomycin in human serum. Methods Valproic acid-d6 and kanamycin B were used as the internal standard of sodium valproate and vancomycin, the serum samples were treated by acetonitrile precipitation protein method. The mobile phase was 0.1% formic acid aqueous solution-acetonitrile for gradient elution. The flow rate was 0.5 ml/min, with column temperature at 25 ℃. The sample volume was 4 μl and total analysis time was 12 min. The positive and negative ion mode was monitored by electrospray ion source and the multiple reaction monitoring mode was used for quantitative analysis. The specificity, standard curve, lower limit of quantification, precision, recovery, matrix effect, and stability of the method were examined. Results Sodium valproate and vancomycin had good linear relationships in the range of 1 - 200 μg/ml and 0.5 - 100 μg/ml, respectively. The quantitative lower limits were 1 μg/ml and 0.5 μg/ml, respectively. The extraction recoveries were above 70%. The inter- and intra-batch precision RSD values were less than 10%. The stability was good and there was no obvious matrix effect. Conclusion This method is simple, quick, sensitive, specific and accurate, which could be used to simultaneously determine the concentration of sodium valproate and vancomycin in human serum.
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Hypervirulent Klebsiella pneumoniae (HvKP) is a new variant of Klebsiella pneumoniae. It is characterized by strong virulence and easy dissemination. It mainly causes liver abscess with multiple invasive infections, including eye, lung and central nervous system, with a high fatality rate. A case of severe intracranial infection caused by HvKP was reported. The patient was a 44-year-old formerly healthy man. He had acute onset of fever, headache, and disturbance of consciousness, which rapidly progressed to intracranial hypertension and respiratory failure. Cerebrospinal fluid examination suggested purulent infection, and bacterial culture suggested Klebsiella pneumoniae, which was sensitive to other commonly used antibiotics except ampicillin. Brain magnetic resonance imaging showed multiple abnormal signals in bilateral frontal, parietal and temporal lobes, right centrum semiovale, bilateral corona radiata, basal ganglia, thalamus and insula, as well as enhancement of meningeal and ependymal membrane, and swelling of brain tissue. During hospitalization, the patient developed a blood stream infection of pan-drug-resistant Klebsiella pneumoniae and was in critical condition. After aggressive treatment, the patient was cured and discharged from the hospital. After half a year follow-up, his prognosis was good and his social function was restored. The clinical data, diagnosis and treatment of the patient were reported and the literature was reviewed to provide clinical reference for the disease.
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ObjectiveTo study the effects of different plant growth-promoting rhizobacteria （PGPR） on the growth of Paris polyphylla var. yunnanensis seedlings and the quality of its medicinal parts， in order to provide reference for the cultivation of high-quality P. polyphylla var. yunnanensis. MethodThe pot culture experiment at room temperature and the single-factor completely random design were employed for exploring the effects of five PGPR on physiological characteristics and inorganic elements of P. polyphylla var. yunnanensis. ResultThe results showed that the exogenous inoculation of different PGPR promoted the growth and development of P. polyphylla var. yunnanensis to varying degrees， delayed the senescence of leaves， and improved the medicinal value of new and old rhizomes. Compared with the non-inoculated control， the exogenous inoculation of compound microbial fertilizer （FH） and microbial agent Sanju Guanjin liquid （SJ） enhanced the root vigor， increased the content of photosynthetic pigments and the activities of anti-oxidant enzymes ［superoxide dismutase （SOD）， catalase （CAT）， and peroxidase （POD）］， and reduced the content of malondialdehyde （MDA） in leaves. Their inhibition rates against MDA were 10.46%-39.62% and 20.99%-53.12%， respectively. With the growth of P. polyphylla var. yunnanensis， the inhibition rate against MDA gradually increased， which effectively delayed the senescence of P. polyphylla var. yunnanensis leaves. In addition， the exogenous inoculation of different PGPR promoted the accumulation of nutrient elements in new and old rhizomes， lowered the heavy metal content to varying degrees， and improved the medicinal value of P. polyphylla var. yunnanensis rhizomes. ConclusionFH and SJ have exhibited the best promoting effect on the growth of P. polyphylla var. yunnanensis seedlings and also the best regulatory effect on the medicinal value of P. polyphylla var. yunnanensis rhizomes， which has provided reference for the application and promotion of PGPR in the growth of P. polyphylla var. yunnanensis.
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ObjectiveTo study the effect of flower removal on the content of three alkaloids in different parts of Fritillaria thunbergii from different regions and at different growth stages. MethodThe content of peiminine， peimine， and peimisine in the bulb， root， stem， and leaf of F. thunbergii after flower removal and with flower un-removed at different growth stages and in different regions were determined simultaneously by ultra-performance liquid chromatography-evaporative light scattering detection （UPLC-ELSD） method. The UPLC was conducted on ACQUITY UPLC BEH C18 column （2.1 mm × 150 mm， 1.7 μm） with the mobile phase of 0.02% triethylamine aqueous solution （A） and methanol （B）elution gradient（0-2 min， 45%A； 2-5 min， 45%-25%A； 5-7 min， 25%A； 7-17 min， 25%-10%A； 17-20 min， 10%A）， flow velocity of 0.20 mL·min-1， column temperature 35 °C， sample room temperature of 20 °C， and injection volume of 3 µL. The ELSD was carried out at drift tube temperature 45 °C and with the sprayer parameter of 40%. ResultThe flower removal significantly increased the yield of F. thunbergii. At the budding stage， the alkaloid content in the bulb of F. thunbergii from Ningbo in Zhejiang， Pan'an in Zhejiang， and Nantong in Jiangsu after flower removal were significantly higher than that of flowering un-removal treatment， while it showed no significant difference between the flower removal and un-removal treatments for the samples from Fengjie in Chongqing. At the flowering stage， the alkaloid content in the bulb of F. thunbergii from Nantong in Jiangsu after flower removal was significantly higher than that of flower un-removal treatment， while it showed an opposite trend for the samples from Pan'an in Zhejiang and Fengjie in Chongqing and had no significant difference between the two treatments for the samples from Ningbo in Zhejiang. At the bulb expansion stage， the alkaloid content in the bulb of F. thunbergii from Ningbo in Zhejiang and Pan’an in Zhejiang after flower removal were significantly higher than that of flower un-removal treatment， which was opposite for the samples from Nantong in Jiangsu and had no significant difference between the treatments for the samples from Fengjie in Chongqing. At the harvest stage， except for the samples from Pan'an in Zhejiang， the samples from the rest 3 regions showed decreased alkaloid content in the bulb after flower removal compared with that of flower un-removal treatment. The alkaloid content in the leaf was higher than that in the bulb of F. thunbergii at all growth stages and from different origins. ConclusionFlower removal can increase the yield of F. thunbergii. The alkaloid content in the bulb of F. thunbergii with flower removed was higher than that with flower un-removed at the budding stage， while this trend was reversed at the harvest stage. Both the yield and the alkaloid content of F. thunbergii from Pan'an in Zhejiang were increased by flower removal. The above-ground part of F. thunbergii has a potential development value.
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Hepatocellular carcinoma (HCC) has a hidden onset and rapid progress. Most of the patients have lost the opportunity of surgery at the onset, and the systemic treatment effect is not satisfactory. In recent years, immune checkpoint inhibitors combined with targeted therapy have brought hope to HCC patients. In particular, treatment with atezolizumab combined with bevacizumab has been recommended by many domestic and foreign guidelines as the first-line treatment for patients with unresectable HCC who have not previously received systematic treatment. In this review, the application status of atezolizumab plus bevacizumab, coping strategies for treatment failure, cost-benefit analysis and side effects were described in order to provide reference for clinical treatment.
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Liver-resident natural killer (LrNK) cells, as a type of newly discovered tissue-resident natural killer cells, have a strong immune killing function. During the development and progression of hepatocellular carcinoma (HCC), the function of LrNK cells is impaired and such cells may promote the progression of HCC by upregulating the expression of related immune checkpoints. Based on the latest research, this article reviews the immune function of LrNK cells and their role in the development and progression of HCC, in order to explore the application prospect of these cells in HCC immunotherapy.
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Objective:To introduce the stereotactic cardiac radioablation (SCRA) based on the stereotactic body radiotherapy (SBRT), and comprehensively evaluate the new approach by short-term effectiveness and safety.Methods:Patients with ventricular arrhythmia (VA) were evaluated and included in this clinical trial, who were immobilized by vacuum bag and performed simulation with 4-dimensional computed tomography (4DCT). In this study, the planning target volume (PTV) was set as the target to design a SBRT plan using volumetric modulated arc therapy (VMAT), which was evaluated by dose parameters such as R 50%, homogeneity index and conformity index, etc. The results of Holter and echocardiography were monitored during the follow-up and compared with the data before treatment. Results:Three subjects with ventricular tachycardia (VT) and one with premature ventricular contraction (PVC) received the same prescription of 25 Gy in a single fraction. The average volume of PTV was 71.4 cm 3(60.3-89.4 cm 3). The average time of beam delivery was 12.0 min (4.5-21.0 min). And the short-term follow-up lasted for an average of 18 weeks (14-25 weeks), which showed significant decrease in both VT and PVC load without complications. Conclusion:This study reports the implementation method of SCRA and proves its short-term effectiveness and safety, but the effects and standards of the key radiotherapy techniques still need to be explored.
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Objective:To compare the status of pediatric intensive care unit(PICU) in general hospitals, children′s hospitals and hospitals for maternal and child health care in China, and provide the basis for standardizing and improving the construction of the PICUs.Methods:The survey was a multicenter, cross-sectional study about the PICU among 126 hospitals in Chinese mainland conducted by online questionnaire from January 1, 2014 to December 31, 2014.Results:In PICUs at general hospitals, children′s hospitals, and hospitals for maternal and child health care, the median number of beds was 14.5, 27.0 and 15.0, respectively, and the median doctor/bed ratio was 0.47, 0.43 and 0.44, respectively.PICUs in three types of hospitals were equipped with monitors and ventilators, and the expansion rate of invasive ventilators was 100%.The proportion of PICU with national continuing education classes, the development rate of two-stage resident training programs and regular examinations for critical care professionals in children′s hospitals was 67% and 75%, respectively, which were much higher than those at general hospitals(20%, 50%) and hospitals for maternal and child health care(30%, 45%), the differences were statistically significant( P<0.05). The year-round median bed utilization rate was more than 85%, especially for children′s hospital, which reached to 100%. Conclusion:In PICUs, the number of beds cannot meet the clinical needs, and the number of medical staff is insufficient.Compared with PICUs of general hospitals and hospitals for maternal and child health care, PICUs in children′s hospitals are more comprehensive in equipment configuration, personnel training and assessment system.
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Antibiotics are the most commonly used medicines in PICU.For children with severe infection, it is very important to ensure the curative effect of patients and reduce the adverse effects of antibiotic abuse through reasonable empirical initial use of antibiotics, timely evaluation and regulation, and appropriate course of antibiotic treatment.This review discussed several main problems of clinical application of antibiotics in PICU, in order to help clinicians in PICU improve the evaluation and management of antibiotics use.
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Objective:To evaluate the effect of obesity on in-hospital prognosis of patients with mechanical ventilation in PICU.Methods:We enrolled 301 patients who received mechanical ventilation treatment in PICU at Chongqing Medical University Affiliated Children′s Hospital, between June 2015 and June 2020, and stratified them into obese group(49 cases), overweight group(96 cases)and normal weight group(156 cases). Obesity was determined by reference to the growth and development standards published by the World Health Organization.Indicators included PICU hospital mortality, duration of mechanical ventilation, length of stay in the PICU, length of stay in hospital and the rates of duration of mechanical ventilation>21 days, re-intubation, tracheotomy, ventilator-associated pneumonia, central venous catheter infection, deep venous thrombosis and pressure ulcers were observed.The influence of obesity on hospitalized prognosis of children in PICU was analyzed.Results:In obesity group, overweight group and normal weight group, PICU hospital mortality(2.0%, 10.4%, 12.2%), the rate of tracheal reintubation(14.3%, 5.2%, 9.0%), the rate of tracheotomy (2.0%, 1.0%, 2.6%), the rate of deep venous thrombosis(8.2%, 3.1%, 5.8%), and the rate of pressure ulcers(4.1%, 7.3%, 1.9%) did not have significant difference(all P>0.05). No ventilator-associated pneumonia and central venous catheter infection occurred in three groups.There were no significant differences in the PICU hospital mortality, duration of mechanical ventilation, length of stay in the PICU, length of stay in hospital among the three groups(all P>0.05). Obesity was not an independent risk factor for in-hospital death in PICU patients on mechanical ventilation( B=1.975, SE=1.038, OR=7.206, 95% CI 0.942~55.127, P=0.057). Conclusion:Obesity does not prolong the duration of mechanical ventilation, length of stay in PICU and total length of stay in hospital, as well as not increase the rate of duration of mechanical ventilation>21 days, re-intubation, tracheotomy, ventilator-associated pneumonia, central venous catheter infection, deep venous thrombosis and pressure ulcers.Obesity is not an independent influencing factor for in-hospital death in patients with mechanical ventilation in PICU.
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Objective:To construct the prognostic prediction model and scoring tool by using severe trauma patients’ physiological indicators on admission, and to verify the clinical application effect and provide a reference for the early evaluation of severe trauma patients.Methods:This study was a retrospective study which adopted cluster sampling. Patients who met the inclusion and exclusion criteria in the emergency department of the First Affiliated Hospital of Soochow University from September 2019 to November 2020 were included. Patients were randomly assigned into the modeling group and the validation group in a ratio of 7:3 based on their outcome in the emergency department. Logistic regression analysis was performed to construct a prediction model, which was simplified as a scoring tool. The model was verified by using validation group and two months’ prospective validation. The efficiency of the simplified scoring tool was compared with that of the revised trauma score (RTS) and the injury severity score (ISS).Results:Totally 863 patients were included in this study, including 604 patients in the modeling group and 259 patients in the validation group. The model included systolic blood, SpO 2 and AVPU score. The AUC for predicting the death of severe trauma patients was 0.938. The AUC of the prediction model was 0.933, the best cut-off point was 5, the sensitivity was 86.7%, the specificity was 94.2%; the AUC of the validation was 0.885, the sensitivity was 83.3%, the specificity was 93.7%; and the AUC of prospective validation was 0.919, the sensitivity was 100%, and the specificity was 76.7%. The AUC of the RTS and ISS were 0.800 and 0.833, respectively. The AUC of RTS was lower than that of the simplified scoring tool constructed in this research. Conclusions:The prediction model and simplified scoring tool are better than RTS in predicting the outcome of emergency severe trauma patients, which are convenient for emergency medical staff to evaluate the severity of trauma patients.
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Objective: To compare clinical and laboratory features between JAK2 exon12 and JAK2 V617F mutated polycythemia vera (PV) . Method: We collected data from 570 consecutive newly-diagnosed subjects with PV and JAK2 mutation, and compared clinical and laboratory features between patients with JAK2 exon12 and JAK2 V617F mutation. Results: 543 (95.3%) subjects harboured JAK2 V617F mutation (JAK2 V617F cohort) , 24 (4.2%) harboured JAK2 exon12 mutations (JAK2 exon12 cohort) , and 3 (0.5%) harboured JAK2 exon12 and JAK2 V617F mutations. The mutations in JAK2 exon12 including deletion (n=10, 37.0%) , deletion accompanied insertion (n=10, 37.0%) , and missense mutations (n=7, 25.9%) . Comparing with JAK2 V617F cohort, subjects in JAK2 exon12 cohort were younger [median age 50 (20-73) years versus 59 (25-91) years, P=0.040], had higher RBC counts [8.19 (5.88-10.94) ×10(12)/L versus 7.14 (4.11-10.64) ×10(12)/L, P<0.001] and hematocrit [64.1% (53.7-79.0%) versus 59.6% (47.2%-77.1%) , P=0.001], but lower WBC counts [8.29 (3.2-18.99) ×10(9)/L versus 12.91 (3.24-38.3) ×10(9)/L, P<0.001], platelet counts [313 (83-1433) ×10(9)/L versus 470 (61-2169) ×10(9)/L, P<0.001] and epoetin [0.70 (0.06-3.27) versus 1.14 (0.01-10.16) IU/L, P=0.002] levels. We reviewed bone marrow histology at diagnosis in 20 subjects with each type of mutation matched for age and sex. Subjects with JAK2 exon12 mutations had fewer loose megakaryocyte cluster (40% versus 80%, P=0.022) compared with subjects with JAK2 V617F. The median follow-ups were 30 months (range 4-83) and 37 months (range 1-84) for cohorts with JAK2 V617F and JAK2 exon12, respectively. There was no difference in overall survival (P=0.422) and thrombosis-free survival (P=0.900) . Conclusions: Compared with patients with JAK2 V617F mutation, patients with JAK2 exon12 mutation were younger, and had more obvious erythrocytosis and less loose cluster of megakaryocytes.
Subject(s)
Adult , Aged , Aged, 80 and over , Bone Marrow/pathology , Exons , Humans , Janus Kinase 2/genetics , Middle Aged , Mutation , Mutation, Missense , Polycythemia Vera/genetics , Young AdultABSTRACT
Cystic fibrosis (CF) is a rare autosomal recessive disease with only one pathogenic gene cystic fibrosis transmembrane conductance regulator (CFTR). To identify the potential pathogenic mutations in a Chinese patient with CF, we conducted Sanger sequencing on the genomic DNA of the patient and his parents and detected all 27 coding exons of CFTR and their flanking intronic regions. The patient is a compound heterozygote of c.2909G > A, p.Gly970Asp in exon 18 and c.1210-3C > G in cis with a poly-T of 5T (T5) sequence, 3 bp upstream in intron 9. The splicing effect of c.1210-3C > G was verified via minigene assay in vitro, indicating that wild-type plasmid containing c.1210-3C together with T7 sequence produced a normal transcript and partial exon 10-skipping-transcript, whereas mutant plasmid containing c.1210-3G in cis with T5 sequence caused almost all mRNA to skip exon 10. Overall, c.1210-3C > G, the newly identified pathogenic mutation in our patient, in combination with T5 sequence in cis, affects the CFTR gene splicing and produces nearly no normal transcript in vitro. Moreover, this patient carries a p.Gly970Asp mutation, thus confirming the high-frequency of this mutation in Chinese patients with CF.