Application and prospect of deep learning in primary liver cancer-related diagnostic model / 临床肝胆病杂志

Deep learning is a process in which machine learning obtains new knowledge and skills by simulating the learning behavior of human brain through massive data training and analysis. With the development of medical technology, a large amount of data has been accumulated in the medical field, and the research on data may help to understand the relationships and rules within data and predict the onset and prognosis of human diseases. Deep learning can find the hidden information in data and has been increasingly used in the medical field. Primary liver cancer is a malignant tumor with high incidence and mortality rates, poor prognosis, and a high recurrence rate, and early diagnosis, timely treatment, and prediction of recurrence have always been the research hotspots in recent years. This article reviews the advances in the application of deep learning in the diagnosis and recurrence of liver cancer from the aspects of risk prediction, postoperative recurrence, and survival risk prediction.

Application of bioinformatics in predicting the risk of hepatocellular carcinoma / 临床肝胆病杂志

Bioinformatics is an interdisciplinary science that combines the tools of mathematics, computer science, and biology to clarify and explore the biological implications of large amounts of biological data. With the continuous development of genome sequencing technology, a large number of biological data has been generated, and mining of the biological significance contained in big data has become one of the main tasks that need to be solved urgently. This article summarizes the risk prediction models for hepatocellular carcinoma (HCC) based on feature genes, so as to provide new perspectives for early identification, prognosis, and treatment optimization of HCC.

Genetic analysis of 21 cases of methylmalonic acidemia / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families.@*METHODS@#Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease.@*RESULTS@#In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC (10%) of MMUT gene, and c.609G>A (45%), c.80A>G (10%) , c.567dupT (10%) of MMACHC gene. Among these, c.2000A>G of MMUT, c.298G>T of MMACHC and c.734-7A>G of MMAA gene were unreported previously.@*CONCLUSION@#Genetic testing for MMA patients can clarify the cause of the disease and provide a basis for the clinical diagnosis. Discovery of novel variants has enriched the mutational spectrum of MMA.

Clinical characteristics of coronavirus disease 2019 infected with Delta variant in Guangzhou:A real-world study / 中华急诊医学杂志

Objective:To summarize the clinical characteristics of patients with coronavirus disease 2019 (COVID-19) infected with Delta variant, so as to provide further references for clinical diagnosis and treatment.Methods:A real-world study was conducted to analyze the characteristics of 166 COVID-19 patients infected with Delta variant at Guangzhou Eighth People’s Hospital, Guangzhou Medical University.Results:The study enrolled 5 asymptomatic cases, 123 non-severe cases (mild and moderate type), and 38 severe cases (severe and critical type). Among these patients, 69 (41.6%) were male and 97 (58.4%) were female, with a mean age of 47.0±23.5 years. Thirty-nine cases (23.5%) had received 1 or 2 doses of inactivated vaccine. The incidence of severe COVID-19 cases was 7.7% in 2-doses vaccinated patients, which was lower than that of 11.5% in 1-dose and 26.8% in unvaccinated patients. The proportion of severe cases in 2 dose-vaccinated patients was 7.7%, which was lower than that of 11.5% in 1-dose vaccinated patients and 26.8% in unvaccinated patients, but the difference was not significant ( P>0.05). The most common clinical symptom was fever (134 cases, 83.2%), and 39.1% of cases presented with high-grade fever (≥39 °C); other symptoms were cough, sputum, fatigue, and xerostomia. The proportion of fever in severe cases was significantly higher than that of non-severe cases (97.4% vs. 76.4%, P<0.01). Similarly, the proportion of severe cases with high peak temperature (≥39 ℃) () was also higher than that of non-severe cases (65.8% vs. 30.9%, P<0.01). The median minimal Cycle threshold (Ct) values of viral nucleic acid N gene and ORFlab gene were 20.3 and 21.5, respectively, and the minimum Ct values were 11.9 and 13.5, respectively. Within 48 h of admission, 9.0% of cases presented with decreased white blood cell counts, and 52.4% with decreased lymphocyte counts. The proportions of increased C-reactive protein, serum amyloid A, interleukin 6, and interleukin 10 were 32.5%, 57.4%, 65.3%, and 35.7%, respectively. The proportions of elevated C-reactive protein, serum amyloid A and interleukin-6 in severe cases were significantly higher than those in non-severe cases ( P<0.01). Logistic regression analysis showed that older age and higher peak temperature were associated with a higher likelihood of severe cases ( OR>3, 95% CI: 2-7, P<0.01). In terms of treatment, traditional Chinese medicine (TCM) was used in 97.6% of non-severe cases and 100% in severe cases. Other treatments included respiratory and nutritional support, immunotherapy (such as neutralizing antibodies and plasma of recovered patients). The median times from admission to progression to severe cases, of fever clearance, and of nucleic acid conversion were 5 days, 6 days and 19 days, respectively. No deaths were reported within 28 days. Conclusions:The symptoms of Delta variant infection in Guangzhou are characterized by a high proportion of fever, high peak temperature, long duration of fever, high viral load, a long time to nucleic acid conversion, and a high incidence of severe cases. The severe cases exhibit a higher percentage of elderly patients, a longer duration of fever and have a higher fever rate and a higher hyperthermia rate than non-severe cases. Age and hyperthermia are independent risk factors for progression to severe disease. The combination of TCM and Western medicine can control the progression of the disease effectively.

Gene variation analysis and prenatal diagnosis for 54 families with oculocutaneous albinism / 中华围产医学杂志

Objective:To investigate the pathogenic gene locus and prenatal genetic diagnosis of 54 families with oculocutaneous albinism (OCA).Methods:This retrospective study enrolled 54 OCA probands and their families from Gansu Province Maternal and Child Health Care Hospital from May 2014 to May 2020. TYR gene variation screening was performed on the probands by Sanger sequencing. Those with negative results were analyzed by high-throughput sequencing, and further verification was performed on their parents by Sanger sequencing. Among the 54 families, 15 ml amniotic fluid were collected from 16 women at 18-21 gestational weeks in their subsequent pregnancy. Sanger sequencing combined with short tandem repeats sequence for linkage analysis were performed for genetic analysis. All data were analyzed using descriptive statistical analysis. Results:Out of the 54 OCA probands, 48 were diagnosed as OCA1, five were OCA2 and one was OCA4 based on the Sanger sequencing and high-throughput sequencing detection. A total of 26 different variation sites were involved in the 48 OCA1 probands, including 15 missense mutations, five nonsense mutations, three splicing mutations, and three frame-shift mutations, among which, c.929insC (29%, 28/96) was the most frequent mutation, followed by c.896G>A (11%, 11/96), c.832C>T (8%, 8/96) and c.703T>C (5%, 5/96). The diagnosis was confirmed in all 16 fetuses in the 16 families that underwent prenatal diagnosis. Five of them were affected and their mothers chose to terminate the pregnancies, the other 11 pregnancies continued to delivery, including seven heterozygous carriers and four fetuses without the same pathogenic allele as the proband. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. All 11 children were in good health during telephone follow-up one month after birth. Postnatal validations were consistent with the prenatal tests.Conclusions:Genetic diagnosis could accurately identify various types of OCA and help to provide prenatal diagnosis and fertility consultation for subsequent pregnancies.

Canonical correlation between health literacy and self-management ability of patients with hypertension in community / 中华行为医学与脑科学杂志

Objective:To understand the status and association of health literacy and self-management ability of hypertensive patients in the community and to provide reference for further intervention research.Methods:From June 2019 to October 2019, a random number table method was used to randomly select multiple streets or towns/townships, and then 401 residents in the community or village aged above 18 years of age diagnosed as hypertension were selected as the subjects of this study. The general data questionnaire, high blood pressure-health literacy scale into Chinese(C-HBP-HLS) and hypertension patients self-management behavior rating scale(HPSMBRS)were used to conduct one-to-one field survey. SPSS 24.0 was used to analyze the scores of health literacy and self-management behavior of patients with hypertension. SAS 9.4 was used to analyze the canonical correlation between health literacy and self-management behavior of patients with hypertension.Results:The score of health literacy and self-management ability were (38.94±17.56) points and (129.45±16.53) points, respectively.The results of canonical correlation analysis showed that the canonical correlation coefficient between health literacy and self-management behavior reached 0.57, which was mainly reflected in the great correlation between " drug label" and " diet management" .Conclusion:Attention should be paid to the positive effect of health literacy on self-management ability, and further intervention research should take the " drug label" and " written health literacy" dimensions of health literacy as entry points to effectively improve the self-management ability of hypertension patients in the community.

Patterns and practice management of occupational exposure of medical staffs in coronavirus disease 2019 isolation wards / 中华传染病杂志

Objective:To explore the patterns and causes of occupational exposure to infectious diseases (OEID) among frontline medical staffs (FMS) in coronavirus disease 2019 (COVID-19) isolation wards (CIW), and the particularity of post-OEID management and the measures to prevent OEID.Methods:A total of 1 061 FMS of Wuhan Huoshenshan Hospital from February 4 to March 21, 2020 were enrolled. The OEID of FMS was investigated and analyzed from the perspectives of FMS physical and psychological conditions, protective equipment, infection-control related regulations and procedures, local air quality, exposure patterns, and the particularity of emergency treatment after exposure.Results:The incidence of OEID among FMS was 2.0%(21/1 061). The nurses and doctors accounted for 95.2%(20/21) and 4.8%(1/21), respectively. The incidences in 17 general wards and two intensive care units (ICU) were 71.4%(15/21) and 28.6%(6/21), respectively. Nearly 90.5%(19/21) and 9.5%(2/21) of the OEID events occurred in contaminated area and potential contaminated area, respectively. About 23.8%(5/21) of the OEID events were air exposure of oral-nasal skin, mucosa and respiratory tract, which was secondary to uncontrollable vomiting, and 76.2%(16/21) were pricking injuries. The inducement factors involved poor quality and inappropriate wearing of some goggles, atomization of the inside of goggles leading to blurring vision, chest distress and decreased sense of touch and operational flexibility related to level-3 protection equipment, poor air quality, FMS physical and psychological conditions, etc. Under the direction of "the Procedures for Handling OEID" , all incidents are properly handled and no FMS was infected by 2019 novel coronavirus and blood-borne pathogens. No new OEID event was found after the strict implement of set of preventive measures.Conclusions:The OEID among FMS in CIW is attributed to multiple causes. The optimized process that takes into account the specificity of OEID management for both COVID-19 and blood-borne infectious diseases can effectively prevent potential post-exposure infections. And reasonable precautions can fully reduce the risk of OEID of FMS in CIW.

Analysis of genetic variant in a child with concomitant spinal muscular atrophy and Citrin protein deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with concomitant spinal muscular atrophy (SMA) and Citrin protein deficiency.@*METHODS@#The child was subjected to whole exome sequencing by using target sequence capture high-throughput sequencing. Candidate variants were verified by Sanger sequencing. The SMN genes of the patient were also analyzed through multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#The patient was found to carry homozygous deletion of exons 7 and 8 of the SMN1 gene, for which his parents were both carriers. The patient also carried compound heterozygous variants c.1737G>A and IVS16ins3kbof the SLA25A13 gene, in addition with compound heterozygous variants c.948G>A and c.2693T>C of the POLG gene, for which his parents were carriers, too.@*CONCLUSION@#Variants of the SLC25A13 gene probably underlay the deficiency of Citrin protein, which may lead to neonatal intrahepatic cholestasis (NICCD). The patient also had SMA. The compound heterozygous variants c.948G>A and c.2693T>C of the POLG gene are likely to cause mitochondrial DNA deletion syndrome type 4A, though other types of mitochondrial disease cannot be excluded.

Comparison of proximal femoral nail antirotation versus InterTAN nail in the treatment of senile patients with unstable femoral intertrochanteric fracture / 中华创伤骨科杂志

Objective@#To compare the clinical efficacy between proximal femoral nail antirotation (PFNA) versus InterTAN nail in the treatment of senile patients with unstable femoral intertrochanteric fracture.@*Methods@#A retrospective study was conducted of the 164 senile patients with unstable femoral intertrochanteric fracture who had been treated at Department of Orthopedics, Shougang Hospital Affiliated to Peking University from January 2013 to March 2018. InterTAN nailing was performed in 93 of them, including 30 men and 63 women with an age of 84.5±2.4 years; by the AO classification, there were 53 cases of type 31-A2.2, 28 cases of type 31-A2.3 and 12 cases of type 31-A3. PENA fixation was performed in the other 71 patients, including 19 men and 52 women with an age of 83.8±2.3 years; by the AO classification, there were 41 cases of type 31-A2.2, 22 cases of type 31-A2.3 and 8 cases of type 31-A3. The 2 groups were compared in terms of weight-bearing time, thigh pain, hip function, imaging complications and postoperative quality of life.@*Results@#The 2 groups were comparable because there were no significant differences between them in preoperative general data (P>0.05). In the InterTAN nail group, the incidence of imaging complications [5.4%(5/93)] was significantly lower than in the PFNA group [18.3%(13/71)], the weight-bearing time (60.0±13.6 d) significantly shorter than in the PFNA group (65.8±11.0 d), and the incidence of thigh pain [3.2%(3/93)] significantly lower than in the PFNA group [12.7%(9/71)] (all P< 0.05). Of this series, 153 patients obtained an average follow-up of 39 months (from 12 to 75 months). At the last follow-ups, the Harris scores in the InterTAN nail group (78.3±12.2) were significantly higher than in the PENA group (73.6±11.3) (P<0.05). The InterTAN nail group scored significantly higher in physical functioning (68.6±15.4), general health perceptions (78.2±10.3), vitality (74.0±12.6) and mental health (80.6±9.9) in the 36-item short form health survey (SF-36) than the PFNA groups did (64.1±9.9, 74.9±9.0, 69.9±10.9 and 77.4±8.8) (all P<0.05).@*Conclusions@#Both internal fixation procedures are able to heal the fracture and restore the hip function in the senile patients with unstable femoral intertrochanteric fracture. However, InterTAN nail may have the advantages of earlier weight-bearing, lower incidence of varus deformity and better recovery of postoperative quality of life.

Comparison of proximal femoral nail antirotation versus InterTAN nail in the treatment of senile patients with unstable femoral intertrochanteric fracture / 中华创伤骨科杂志

Objective To compare the clinical efficacy between proximal femoral nail antirotation (PFNA) versus InterTAN nail in the treatment of senile patients with unstable femoral intertrochanteric fracture.Methods A retrospective study was conducted of the 164 senile patients with unstable femoral intertrochanteric fracture who had been treated at Department of Orthopedics,Shougang Hospital Affiliated to Peking University from January 2013 to March 2018.InterTAN nailing was performed in 93 of them,including 30 men and 63 women with an age of 84.5 ± 2.4 years;by the AO classification,there were 53 cases of type 3 1-A2.2,28 cases of type 3 1-A2.3 and 12 cases of type 3 1-A3.PENA fixation was performed in the other 71 patients,including 19 men and 52 women with an age of 83.8 ±2.3 years;by the AO classification,there were 41 cases of type 31-A2.2,22 cases of type 31-A2.3 and 8 cases of type 31-A3.The 2 groups were compared in terms of weight-bearing time,thigh pain,hip function,imaging complications and postoperative quality of life.Results The 2 groups were comparable because there were no significant differences between them in preoperative general data (P ＞ 0.05).In the InterTAN nail group,the incidence of imaging complications [5.4％ (5/93)] was significantly lower than in the PFNA group [18.3％ (13/71)],the weight-bearing time (60.0 ± 13.6 d) significantly shorter than in the PFNA group (65.8 ±.11.0 d),and the incidence of thigh pain [3.2％ (3/93)] significantly lower than in the PFNA group [12.7％ (9/71)] (all P ＜0.05).Of this series,153 patients obtained an average follow-up of 39 months (from 12 to 75 months).At the last follow-ups,the Harris scores in the InterTAN nail group (78.3 ± 12.2) were significantly higher than in the PENA group (73.6 ± 1 1.3) (P ＜ O.05).The InterTAN nail group scored significantly higher in physical functioning (68.6 ± 15.4),general health perceptions (78.2 ± 10.3),vitality (74.0 ± 12.6) and mental health (80.6 ±9.9) in the 36-item short form health survey (SF-36) than the PFNA groups did (64.1±9.9,74.9±9.0,69.9±10.9 and77.4±8.8) (all P ＜0.05).Conclusions Both internal fixation procedures are able to heal the fracture and restore the hip function in the senile patients with unstable femoral intertrochanteric fracture.However,InterTAN nail may have the advantages of earlier weight-bearing,lower incidence of varus deformity and better recovery of postoperative quality of life.

Comparison of clinical characteristics of diffused capillary endothelial proliferative Henoch?Schonlein purpura nephritis children with or without crescents formation / 中国综合临床

Objective To compare the clinical features of diffuse capillary endothelial proliferative Henoch-Schonlein purpura nephritis ( DEP-HSPN ) with or without crescent formation. Methods The clinical data of 110 children with DEP-HSPN admitted to Dalian Central Hospital and the First Affiliated Hospital of Dalian Medical University from January 2008 to January 2018 were analyzed retrospectively. Among them,24 cases were divided into non crescentic group and 86 cases into crescentic group. The clinical characteristics and prognosis of the two groups were statistically analyzed. Results The clinical manifestations of children without crescent body formation group were all type III. There were 35 cases of type III and 51 cases of type V in the crescent body formation group. Compared with non-crescent formation group,the proportion of gross hematuria(83. 7%(72／86) vs. 29. 2%(7／24),χ2＝10. 396),urine red blood cell count ((112. 4±20. 3)／HP vs. (45. 2±10. 6)／HP,t＝9. 697),24 h urine protein ((2471. 6 ±242. 0) mg／d vs. (1358. 5±109. 3) mg／d,t＝6. 372) and serum creatinine (( 44. 9 ± 9. 6) μmol／L vs. (32. 3±5. 2) μmol／L,t＝5. 390) increased significantly,the serum albumin (( 22. 8±3. 8) g／L vs. ( 35. 1 ±5. 7) g／L,t＝4. 806)decreased significantly (all P＜0. 05). Both groups had non-simple IgA deposits in the mesangial region. The proportion of complete remission and asymptomatic hematuria was 70. 8%( 17／24) and 29. 2%( 7／24) in the non-crescent group, 58. 1%( 50／86) and 41. 9%( 36／86) in the crescent group,respectively,with no significant difference ( χ2＝1. 330,1. 196, all P＞0. 05) . Conclusion When DEP-HSPN is accompanied by crescent formation, gross hematuria, urinary erythrocyte count and the proportion of massive proteinuria increase significantly. Combined immunosuppressive therapy in acute stage and long-term sequential treatment in remission stage can achieve good prognosis.

Simultaneous Determination of 9 Kinds of Organic Solvents Residues in Total Flavonoids Extracts from Abelmoschus manihot by Headspace GC / 中国药房

OBJECTIVE： To establish a method for simultaneous determination of 9 kinds of organic solvents residues in total flavonoids extracts from Abelmoschus manihot. METHODS： Headspace GC was adopted to determine the contents of 9 kinds of organic solvents residues in total flavonoids extracts from A. manihot， such as benzene， acrylonitrile， methyl methacrylate， toluene， 1，2-dichloroethane， xylene， chlorobenzene， styrene and divinylbenzene. The determination was performed on Agilent DB-WAX capillary column （30 m×0.25 mm， 0.25 μm） through temperature-programmed route. The inlet temperature and FID detector temperature were set at 250 ℃. The carrier gas was nitrogen with the flow rate of 1.2 mL/min. The split ratio was 10 ∶ 1. The containers of headspace injector were in equilibrium at 90 ℃ for 45 min and the sample size was 1 mL. RESULTS： The separation degree among the peaks of 9 components was greater than 1.5， and the blank solvent （10％ N-methyl pyrrolidone aqueous solution） had no interference. The linear ranges of them were 0.16-1.21， 0.80-6.03， 1.61-12.09，1.62-12.12， 0.16-1.21， 1.60-12.01， 0.81-6.11， 1.60-12.03， 0.80-6.03 μg/mL， respectively （r≥0.999 4）. The limits of quantitation were 0.162 08， 0.201 08， 0.080 6， 0.080 768， 0.161 92， 0.400 36， 0.040 712， 0.026 736， 0.013 395 μg/mL； the limits of detection were 0.040 52， 0.040 216， 0.026 87， 0.026 9，0.040 48， 0.080 072， 0.013 57， 0.008 912， 0.004 465 μg/mL， respectively. RSDs of precision （n＝5） and reproducibility （n＝6） tests were all lower than 5％. Average recoveries were 99.41％-111.27％（RSD＜9％， n＝9）. Above 9 residual solvents were not detected in 3 batches of total flavonoids extracts from A. manihot. CONCLUSIONS： Established method is simple， accurate and reliable， and can be applied for simultaneous detection of 9 kinds of organic solvents residues in total flavonoids extracts from A. manihot.

Disabled homolog 2 interacting protein expression in basal cell carcinoma of the skin and its clinical significance / 中华皮肤科杂志

Objective To determine the expression of disabled homolog 2 interacting protein (DAB2IP) gene in the basal cell carcinoma (BCC) of the skin,and to investigate its clinical significance.Methods Clinical data were retrospectively analyzed in 105 outpatients and inpatients who received skin mass resection in Department of Dermatology,Guangdong Second Provincial General Hospital and Guangzhou Institute of Dermatology between January 2012 and November 2017.Totally,79 patients with pathologically diagnosed BCC of the skin served as patient group,and 26 patients with pathologically diagnosed skin tag but without other clinical manifestations served as control group.Immunohistochemical staining was performed to determine the expression of DAB2IP in the two groups,and correlations of the DAB2IP expression with the clinical phenotype and pathological features of BCC of the skin were analyzed.Statistical analysis was carried out with SPSS21.0 software by using chi-square test for the comparison of enumeration data.Results The protein expression of DAB2IP was observed in 11 (42.3％) of 26 patients in the control group,as well as in 74 (93.7％) of 79 patients in the patient group,and there was a significant difference in the positive rate of DAB2IP protein between the two groups (x2 =33.50,P ＜ 0.05).The expression of DAB2IP was uncorrelated with gender or age of patients with BCC of the skin,or with the tumor size (all P ＞ 0.05).The positive rate of DAB2IP protein significantly differed between the patients with superficial BCC (5/7) and those with invasive BCC (95.8％,69/72;x2 =6.47,P ＜ 0.05).Of the 79 patients with BCC of the skin,Ki-67 protein was detected in 31 (39.2％),and the cancer cells expressing Ki-67 protein also expressed DAB2IP protein.Conclusion The expression of DAB2IP increases in BCC of the skin,which may be associated with the occurrence and infiltration of BCC of the skin.

Advances in mechanism and management of adverse drug reactions targeting anti?angiogenesis drugs / 中国综合临床

Angiogenesis plays an important role in the occurrence,development and metastasis of malignant tumors,and anti?angiogenesis has become an important therapeutic method in molecular targeted therapy of tumors.At present, the commonly used anti?angiogenesis drugs include monoclonal antibodies (bevacizumab),tyrosine kinase inhibitors (sorafenib,sunitinib),and endothelial cell growth inhibitors.The adverse reactions of different kinds of targeted anti?angiogenesis drugs are different.To grasp the mechanism of adverse reactions and the treatment measures of related adverse reactions of these drugs will improve the tolerance of patients receiving this kind of drugs, and at the same time, the prognosis of patients will be further improved.

Effect evaluation of blood component transfusion combined with recombinant activated factorⅦa in treatment of severe active hemorrhage after cardiac surgery / 中国综合临床

Objective To evaluate the efficacy and complications of component blood transfusion combined with recombinant activated factorⅦa(rFⅦa)in treatment of severe active hemorrhage after cardiac surgery??Methods Fifty patients who suffered from severe active hemorrhage after cardiac surgery were selected from the First Affiliated Hospital of Dalian Medical University from July 2015 to May 2017??All patients were divided into GR group ( component blood transfusion combined with rFⅦa) and GA group (component blood transfusion combined with tranexamic acid) by random number table method,25 cases in each group??The changes of disseminated intravascular coagulation (DIC) were screened on admission(D1), after cessation of cardiopulmonary bypass ( D2 ), and 2 h ( D3 ), 6 h ( D4 ) and 12 h ( D5 ) after medication??The difference of activated partial thromboplastin time (APTT), international normalized ratio (INR),fibrinogen,hemoglobin and platelet of the two groups at each time point of D1,D2,D3,D4 and D5 were analyzed??Meanwhile, the postoperative drainage, postoperative blood transfusion, postoperative plasma transfusion volume, postoperative mechanical ventilation time, ICU retention time, the 30 d mortality and complications were compared between the two groups??Results There were significant differences in APTT, INR,fibrinogen,hemoglobin and platelet between the two groups ( all P＜0??05)??There was no significant difference in the indices of DIC screening between the two groups at D1, D2 and D5 time points ( all P＞0??05),but at D3 time point,APTT in GR group was significantly shorter than that in GA group((50??3 ±6??6)s vs??(60??1±6??5)s,P＝0??027),and INR in GR group at D4 time point was also significantly lower ((1??3 ± 0??3) vs??( 1??5 ± 0??3), P＝0??041)??In addition, the amount of red blood cells transfusion after treatment in GR group and GA group (( 3??2± 1??0) U vs??(4??1 ± 1??0) U,P＝0??005),the amount of fresh plasma transfusion ((303??2±98??5) ml vs??(469??6± 190??5) ml,P＝0??000),the amount of 24 h drainage after operation ((519??9±107??5) ml vs??(657??2±100??1) ml, P＝0??000) were significantly decreased,the differences were statistically significant??Conclusion Blood component transfusion combined with rFⅦa can significantly improve APTT and INR of severe active hemorrhage after cardiac surgery,at the same time,it can reduce the amount of red blood cells transfusion and plasma transfusion??

Effect of health literacy interventions with the stages of change on Kazakh-Chinese hypertension pa-tients / 中华行为医学与脑科学杂志

Objective To evaluate the effect of the intervention combined the high blood pressure health literacy(HBP-HL) with the stages of change on waist circumference( WC),body mass index( BMI) and physiological-biochemical indexes among the Kazakh-Chinese hypertensive patients. Methods The in-terventional plan was built based on the " Stages of Change of Transtheoretical Model" . This randomized con-trolled trial study was carried out from July 2014 to January 2016,and Kazakh hypertension patients from" qianjin" and " small canal" pastoral areas were sampled using stratified cluster sampling method,with 74 patients from each place. The general health management combined with " High Blood Pressure Health Edu-cation" handbook was applied in the control group. The intervention group was given the 12-month interven-tion combined the HBP-HL with the stages of change based on the control group. Meanwhile,WC,BMI and other data were collected at the first,twelfth and eighteenth months. Results Repeated variance analysis showed interaction effects between time and group (F=14. 396,15. 214,P<0. 05),indicating that the effect of intervention factors on WC and BMI would increase over time when intervention existed. The total choles-terol ((5. 69±0. 93)mol/L),low density lipoprotein ((3. 74±0. 86)mol/L) and serum creatinine ((65. 46 ±13. 45)mol/L) of hypertension patients in intervention group were lower than those before intervention (t=3. 998,4. 581,2. 574,P<0. 05). After intervention,the scores of total health literacy ( t=5. 157) ,under-standing ability (t=6. 504),the latest vital signs (t=11. 583) and avoiding food allergy ( t=3. 778) of the intervention group were higher than those of the control group,and the differences were statistically significant (P<0. 05). Conclusions The intervention strategy of " health literacy-behavioral change stage" is feasible and effective. It can significantly reduce WC,BMI,total cholesterol,low density lipoprotein and serum creati-nine in Kazakh hypertension patients in pastoral areas,and the short-term maintenance effect of the interven-tion is acceptable.

Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia / 中华医学遗传学杂志

OBJECTIVE@#To identify mutation of the PAX6 gene in a patient with congenital aniridia.@*METHODS@#DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.@*RESULTS@#The proband was found to harbor a heterozygous c.239T>A (p.Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls.@*CONCLUSION@#A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.

Comparison of clinical features and prognosis in patients with accidental N1 phase and expected N1 phase of non-small cell lung cancer / 中国综合临床

Objective To compare the clinical features and prognosis in patients with accidental N1 phase and expected N1 phase of non-small cell lung cancer( NSCLC) . Methods Retrospective analysis was performed on the one hundred and seventy-six NSCLC patients who underwent surgery and were pathologically diagnosed with pT1-3N1M0 phase NSCLC from January 2008 to June 2012. Among them,there were 75 patients with accidental N1 disease (cN0-pN1) NSCLC (accidental group),and 101 patients with expected N1 disease (cN1-pN1) NSCLC (clinical group). The clinical features,metastasis and recurrence,survival time,1,3,5-year survival rates of the two groups were analyzed. Results There were significant differences in tumor diameter, pathologic T staging,the number of lymph node metastasis and the number of stations between the two groups (P<0. 05) . The local recurrence rate of the patients in the accident group was 10. 7% ( 8/ 75), which was significantly lower than that in the clinical group 21. 8% ( 22/ 101), and the difference was statistically significant (χ2 = 7. 988,P= 0. 039). The survival time of accidental group was (46. 8±5. 5) months,compared with the expected group ((29. 7±4. 9) months),it was obviously prolonged (t = 8. 665,P = 0. 029). The 1,3 and 5 year survival rates in the accident group were 85. 3% (64/ 75),57. 3% (43/ 75),42. 7% (32/ 75), respectively,which were significantly higher than those in the clinical group (73. 3% (74/ 101),43. 6% (44/101),28. 7% (29/ 101)) (χ2 = 6. 089,7. 490,9. 112,P<0. 05). Conclusion The clinical manifestations are different. N1 phase NSCLC patients have a certain degree of heterogeneity. Accidental N1 phase NSCLC patients have obvious advantages in local recurrence and long-term survival than those with clinical N1 phase NSCLC.

Prenatal diagnosis and PAH gene mutations in 55 pedigrees with phenylketonuria / 中华围产医学杂志

Objective To investigate phenylalanine hydroxylase ( PA H ) gene mutations and to perform prenatal diagnosis in 55 pedigrees with classical phenylketonuria (PKU). Methods Subjects of this study were 55 probands diagnosed with PKU in the Gansu Provincial Maternal and Child Health Care Hospital from 2013 to 2017 and their pedigrees. Sanger sequencing/Multiplex ligation-dependent probe amplification (MLPA) was used to investigate PA H gene mutations in these probands and their parents. Sanger sequencing/MLPA, linkage analysis of three common short tandem repeats (STR) including PAH-26, PAH-STR and PAH-32 in the PA H gene and paternity testing were used in combination for prenatal diagnosis of 60 fetuses in the 55 pedigrees. Results Among the 110 alleles in the 55 probands, 108 mutant alleles (98.2%) were found by Sanger sequencing. The 108 mutant alleles located in 38 regions resulting in 22 missense mutations, nine splice site mutations, five nonsense mutations and two microdeletion. The most common mutations were c.728G>A (22.2%, 24/108), c.442-1G>A (5.6%, 6/108), c.611A>G (5.6%, 6/108), c.764T>C (5.6%, 6/108), c.1068C>A (5.6%, 6/108) and c.331C>T (4.6%, 5/108). Loss of heterozygosity in 4-5 and 4-7 exons were detected by MLPA in two probands, in which only one mutation was unidentified. Prenatal diagnosis for the 60 fetuses were successfully performed. Among them, 17 fetuses (28.3%) were affected, 29 fetuses (48.3%) were heterozygous carriers and fetuses 14(23.4%) were unaffected ones. Conclusions Combination of Sanger sequencing/MLPA, linkage analysis and paternity testing could provide accurate prenatal diagnosis in pedigrees with PKU.

Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II / 中华医学遗传学杂志

OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS A c.127C>T (p.R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. CONCLUSION The c.127C>T (p.R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.