1.Genetics and Prenatal Diagnosis Analysis of a Couple with Autosomal Recessive Deafness
Xiangke LIU ; Zuyao LU ; Lina LIU ; Shengju HAO ; Ling HUI ; Chuan ZHANG ; Fuping LI
Journal of Audiology and Speech Pathology 2024;32(4):297-301
Objective To perform genetic analysis in a family line of a pregnant couple with autosomal reces-sive non-syndromic deafness in order to identify its possible genetic etiology and provide prenatal diagnosis.Methods Whole-exome sequencing(WES)was used to analyze the genes of the proband,and Sanger sequencing was used to verify the suspected pathogenic loci.Prenatal genetic diagnosis was performed after amniotic fluid collection at 18 weeks of pregnancy.Results Autosomal recessive deafness type 3 related gene MYO15A c.10419_10423delCAGCT/c.10294_10308delCCTTGCATCCTTGCC compound heterozygous variant was found in the wife.A compound heterozygous variant of autosomal recessive deafness type 77-related gene LOXHD1:c.6388C>T/ex-on 33-38 del.Maternal MYO15A c.10294_10308del CCTTGCATCCTTGCC heterozygous variant were detected in the husband and paternal LOXHD1 exon 33-38 del heterozygous variant were detected in the fetus.At the same time,the paternal CDH23 c.6693delT heterozygous mutation and the maternal PCDH15 c.5048_5051dupAGAA heterozygous mutation were detected in the fetus.These two heterozygous mutations lead to the possibility of the fe-tus suffering from ID/F Usher syndrome.Conclusion The deafness of the couple is caused by two different deaf gene mutations,and the probability of the fetus having the same deafness as the couple is very low.However,the fetus has a high possibility of having deafness caused by two gene mutations.Therefore,deafness caused by two gene mutations should be paid attention to in the prenatal diagnosis of families with both deaf parents.
2.Application of modified presentation assimilation discussion combined with heuristic clinical medicine teaching in training of extracorporeal membrane oxygenation specialist nurses
Huili LYU ; Zhan YANG ; Fuhua LI ; Dandan WANG ; Xiang ZHAO ; Jianfang CHANG ; Feifei WANG ; Xiangke ZHAO ; Xiaojun LIU ; Shaoyan QI
Chinese Journal of Modern Nursing 2024;30(22):3047-3051
Objective:To explore the application effect of the modified presentation assimilation discussion combined with heuristic clinical medicine teaching in training of extracorporeal membrane oxygenation specialist nurses.Methods:The convenient sampling method was used to select 62 nurses who participated in training of extracorporeal membrane oxygenation specialist nurses in the Second Affiliated Hospital of Zhengzhou University from January to June 2023 as the research objects. A total of 30 nurses who participated in the 25th training session from January to March 2023 were selected as the control group, and 32 nurses who participated in the 26th training session from April to June 2023 were selected as the observation group. The control group received conventional training method, while the observation group received modified presentation assimilation discussion combined with heuristic clinical medicine teaching. The theoretical knowledge and operational skills of nurses, core competence of extracorporeal membrane oxygenation specialist nurses and training satisfaction were compared between the two groups after training.Results:After training, the scores of theoretical knowledge and operational skills, core competence of extracorporeal membrane oxygenation specialist nurses and training satisfaction in observation group were higher than those in control group, and the differences were statistically significant ( P<0.05) . Conclusions:The modified presentation assimilation discussion combined with heuristic clinical medicine teaching can improve the theoretical knowledge and operational skills of extracorporeal membrane oxygenation specialist nurses, and the nurses' training satisfaction is higher.
3.Molecular traceability analysis of Plasmodium vivax from a cluster outbreak
LIU Yaobao ; XU Sui ; ZHU Guoding ; HU Xiangke ; ZHUANG Shifeng ; GAO Qi
China Tropical Medicine 2024;24(4):377-
Abstract: Objective To conduct genotyping and molecular tracing analysis on Plasmodium vivax samples from a cluster of P. vivax malaria outbreak in order to provide a reference for case geographical origin determination. Methods Blood samples from 4 patients in a vivax malaria cluster in Longhui County, Hunan Province from June to July 2018 were collected for species identification by qPCR, and 9 microsatellite molecular markers were used to genotype the parasite strains from four samples. The population genetic STRUCTURE analysis was performed based on the VivaxGEN-MS microsatellite genotype database of P. vivax in the Asia Pacific Malaria Elimination Network, to determine the genetic subgroups and geographical origin of the strains. Results By qPCR, all 4 cases were identified as Plasmodium vivax infection, and 9 microsatellite loci of the 4 cases were successfully typed, and the four samples had different genetic haplotypes, among which case 1, case 3, and case 4 were infected by a single clonal strain, and case 2 was infected by a polyclonal strain. When all P. vivax samples were divided into 2 subpopulations (K=2) by STURCTURE analysis, 4 Hunan samples were classified into tropical genetic subpopulations (comprising strains from Ethiopia, Iran, Bhutan, Malaysia, Indonesia, and southern China). When the samples were divided into 4 subgroups by STURCTURE analysis (K=4), the 4 Hunan samples were classified as South Asian/Southeast Asian genetic subgroups (originating from Bhutan, Malaysia, Indonesia, and southern China). Conclusions The results of molecular tracing do not support that the 4 P. vivax strains in this outbreak originated from the population of central China. The technology of molecular tracing of P. vivax can provide objective evidence for determining the source of infection in malaria cases during the stage of malaria elimination and post-elimination.
4.Construction and application of an interhospital standardized transport scheme for patients supported by extracorporeal membrane oxygenation
Xiaojuan CHEN ; Wei ZHENG ; Fuhua LI ; Huili LYU ; Xiaojun LIU ; Lihua XING ; Shaoyan QI ; Feifei WANG ; Huaixing LIU ; Xiangke ZHAO
Chinese Journal of Modern Nursing 2022;28(16):2173-2177
Objective:To construct an inter-hospital standardized transport scheme for patients supported by extracorporeal membrane oxygenation (ECMO) combined with modified early warning score (MEWS) and the transport checklist based on the theory of process reengineering.Methods:Through literature review, according to the actual situation of the Second Affiliated Hospital of Zhengzhou University, the MEWS scores and transport verification sheets were effectively combined to construct the inter-hospital standardized transport scheme for patients supported by extracorporeal membrane oxygenation. And according to the inter-hospital standardized transport scheme, the medical staff in the transport team were trained and assessed for ECMO patient transport knowledge. Using the convenient sampling method, a total of 223 ECMO patients admitted to the Second Affiliated Hospital of Zhengzhou University from January to December 2019 who were transported by conventional transport were selected as the control group. A total of 222 ECMO patients who were transported by the ECMO interhospital standardized transport scheme from January to December 2020 were selected as the observation group. This study Compared the incidence of adverse transport events in the two groups of and the transport knowledge of medical staff in the transport group before and after training.Results:The score of transport knowledge of ECMO patients of medical staff after training were higher than those before training, and the difference was statistically significant ( P<0.01) . The incidence of transport adverse events in the observation group was lower than that in the control group, and the difference was statistically significant ( P<0.05) . Conclusions:The standardized inter-hospital transport scheme for ECMO patients can form an efficient and safe standardized transport process, reduce the incidence of adverse transport events and improve the transport safety of ECMO patients.
5.Effects of supplemental probiotics on the changes of immunity and microecology in asthmatic children
Bin WANG ; Panpan ZHANG ; Xiangke CAO ; Qingzeng QIAN ; Haiyan LIU
Clinical Medicine of China 2018;34(2):109-114
Objective To investigate the influence of supplemental probiotics on the changes of immunity and microecology in asthmatic children. Methods One hundred and seventy?six asthmatic children treated in the Affiliated Hospital of North China University of Science and Technology from October 2015 to October 2016 were selected in the study and were randomly divided into two groups, 88 cases in each group. Patients in the control group were given routine treatment, and the observation group was treated with routine treatment combined with probiotics. The changes in immune index and microecological index before and after the treatment were compared between the two groups. Results After treatment, the observation showed CD3+ was(65. 8±2. 6)%,CD4+was(39. 2±1. 3)%,CD8+ was(24. 5±1. 0)%,CD4+/CD8+ was(1. 6±0. 2),NK cells was(15.2±0.4)%,Th1/ Th2 was(5.7±1.3),interferon γ was(56.3±1.8)ng/L,bifidobacterium was (9. 3±0. 7)lgCFU/g,lactobacillus was(9. 5±0. 6)lgCFU/g,yeast was(6. 6±0. 8)lgCFU/g,compared with those before treatment ((52. 5±1. 7)%,(23. 6±0. 8)%,(19. 7±0. 9)%,(1. 2±0. 1),(12. 8±0. 3)%,(3. 4±0. 7), (44.0±1.5)ng/L,(4.2±1.1)lgCFU/g,(4.9±0.4)lgCFU/g,(3.7±0.4)lgCFU/g),the differences were statistically significant ( t= 5. 533, 9. 957, 5. 436, 6. 332, 4. 875, 9. 764, 5. 727, 15. 143, 12. 387, 10. 837, P<0. 05). After treatment,in the control group,CD3+ was(60. 1±3. 4)%,CD4+ was(30. 7±1. 2)%,CD8+ was (21.9±1.1)%,CD4+/ CD8+ was(1.4±0.3),NK cells was(14.0±0.3)%,Th1/ Th2 was(4.6±0.9), interferon γ was ( 50. 2 ± 1. 4 ) ng/L, bifidobacterium was ( 7. 6 ± 0. 8 ) lgCFU/g, lactobacillus was ( 8. 1 ± 0. 7 ) lgCFU/g, yeast was ( 4. 9 ± 0. 8 ) lgCFU/g, compared with those before treatment ( ( 52. 4 ± 2. 0 )%, ( 23. 8 ±0. 7)%,(19. 8±0. 6)%,(1. 2±0. 2),(12. 7±0. 2)%,(3. 5±1. 1),(44. 1±1. 3)ng/L,(4. 3±0. 9)lgCFU/g, (5.0±0.5)lgCFU/g,(3.8±0.6)lgCFU/g),the differences were statistically significant(t=4.469,5.899, 4. 061,4. 667,4. 023,6. 143,4. 363,10. 674,9. 201,5. 894,P<0. 05) . The above indexes in observation group were higher than those in the control group ( t=3. 948, 3. 162, 4. 187, 4. 428, 3. 857, 5. 391, 4. 202, 5. 236, 4. 728,6. 469,P<0. 05). After treatment,the observation group showed IgE(139. 4±21. 0)was kU/L,IL?4(30. 2 ±1. 7)was ng/L,IL?10 was(6. 3±0. 8)ng/L,escherichia coli was(4. 8±0. 6)lgCFU/g,streptococcus was(6. 1 ±0.9)lgCFU/g,bacillus was(4.6±0.2)lgCFU/g,staphylococcus was(1.9±0.3)lgCFU/g,enterococcus was (5.2±0.4)lgCFU/g,compared with those before treatment((381.2±49.6)kU/L,(59.4±3.5)ng/L,(13.9 ±1.1)ng/L,(7.1±0.5)lgCFU/g,(8.4±0.6)lgCFU/g,(8.0±0.6)lgCFU/g,(4.0±0.8)lgCFU/g,(7.4 ±0. 8)lgCFU/g),while the differences were statictically significant (t=22. 231,12. 667,15. 063,7. 791,6. 770, 10. 392,16. 523,7. 232,P<0. 05). After treatment,in control group showed IgE was (230. 8±31. 7) kU/L,IL?4 was (41. 3±2. 3)ng/L,IL?10 was (9. 8±0. 7)ng/L,escherichia coli was (5. 9±0. 7)lgCFU/g,streptococcus was (7. 2±1. 0)lgCFU/g,bacillus was (6. 4±0. 8)lgCFU/g,staphylococcus was(2. 7±0. 7)lgCFU/g,enterococcus was (6.1±0.6)lgCFU/g,compared with those before treatment((387.9±54.3)kU/L,(59.6±3.4)ng/L, (13. 7±1. 2)ng/L,(7. 0±0. 4)lgCFU/g,(8. 3±0. 5)lgCFU/g,(8. 1±0. 7)lgCFU/g,(4. 1±1. 0)lgCFU/g,(7. 3 ± 0. 7 ) lgCFU/g ) , while there were significant differences ( t= 9. 826, 7. 390, 6. 979, 4. 864, 4. 527, 5. 656、8. 185,4. 967,P<0. 05). The above indexes in observation group were lower than those in the control group(t=9. 618,6. 713,8. 556,5. 290,4. 803,6. 913,7. 215,4. 731,P<0. 05) . The intestinal flora time was ( 5. 6 ± 1) d,hospitalization time was (10. 2 ± 1. 3) d,hospitalization expenses (3527. 1 ± 403. 2) RMB in the observation group,compared with (10. 7±1. 8)d,(14. 6±2. 1)d,(4689. 4±526. 7)RMB in the control group,the differences between the two groups were statistically significant ( t= 12. 107, 7. 314, 6. 295, P<0. 05 ) . Conclusion Probiotic supplement can improve immune status and microecology status in asthmatic children,which is worthy of clinical use.
6.Practical application of improved lateral radiography of the hip joint
Lei XUE ; Xu SHANG ; Zhuo LIU ; Xiangke DU ; Hao LIANG ; Weiwei QI
Journal of Practical Radiology 2017;33(9):1443-1446
Objective To design a simple and easy to operate new position radiography as same effect as the ordinary lateral position of the hip joint.Methods Using different angles for bone model radiography, the tilt angle of X-ray and the bone model were measured in order to obtain that the femoral head and neck was fully displayed.30 subjects with hip joint disease underwent routine and improved lateral radiography of the hip joint were enrolled, and the actual operations and image quality of the two methods were compared.Results The tilt angle of X-ray was 35°-45°,and the tilt angle of the bone model was 60°-70°, and the score was 3.The new lateral radiography of the hip joint was feasible,the display rate of the articular surface and joint space were 96.7%,the display rate of the femoral head and neck all were 100%,the display rate of the greater trochanter of femur was 80%,the display rate of the lesser trochanter was 100%.Conclusion The improved method of hip joint lateral position of X-ray can better show the femoral head, neck and the rest of the bone.
7.Observation on safety of renal transplantation in patients with idiopathic thrombocytopenic purpura
Xiangke PEI ; Wei JIANG ; Yanbin LIU ; Qishun YANG ; Wei LONG ; Shuobin YANG
Organ Transplantation 2015;(2):102-104,115
Objective To investigate the safety of renal transplantation in patients with idiopathic thrombocytopenic purpura (ITP).Methods Clinical data of two ITP patients undergoing renal transplantation were retrospectively analyzed and pertinent literatures were reviewed.Results Prior to renal transplantation, the platelet count of these two patients was 41 ×109 /L and 34 ×109 /L,respectively.The coagulation function was normal and no active bleeding was observed.They underwent renal transplantation successfully without obvious bleeding intra-or post-operatively.The platelet count of one patient who received hydrocortisone impulse therapy for three days and maintenance treatment with immunosuppressant based on ciclosporin recovered to normal range and kept stable at 7 days after renal transplantation.Though receiving platelet-promoting drugs and platelet infusion,the platelet count of the other patient treated with methylprednisolone impulse therapy for 3 days and maintenance therapy with immunosuppressant based on tacrolimus did not recover to normal range but fluctuated between 10 ×109 /L and 30 ×109 /L after renal transplantation.Renal function was well maintained in both recipients.Conclusions The risk of renal transplantation related bleeding in ITP patients is correlated with whether the preoperative active bleeding or not.Renal transplantation is relatively safe for uremia patients without active bleeding pre-operation.
8.Research on the Clinical Effects of Post-Discharge Implementation of Disease Management for Patients with ;Chronic Heart Failure
Lianqin WANG ; Liping QI ; Junhua HAO ; Hongbo CHEN ; Aimin LIU ; Jinxing MU ; Xiaozeng LI ; Dong WANG ; Xiangke JIA ; Yanxia GU
Chinese Journal of Clinical Medicine 2015;(4):494-498
Objective:To establish the post-discharge disease management program for patients with chronic heart failure,and observe the effects of disease management on prognosis.Methods:Totally 207 patients with chronic heart failure,who were ad-mitted to hospital due to acute exacerbation,were enrolled.After discharge these patients were randomly divided into the study group (103 cases)and the control group (104 cases).Disease management program was implemented in the study group,and only routine outpatient follow-up was implemented in the control group.The clinical follow-up results one year after discharge were compared between the two groups.Results:Excluding the patients lost during follow-up,totally 1 88 patients completed the data collection,among which 98 cases were from the study group and 90 cases were from the control group.There was no significant difference regarding the baseline of clinical characteristics between the two groups (P >0.05 ).Follow-up results showed that compared with that in the control group,within the six months after discharged,the readmission rate,the multi-ple readmission rate,and the readmission or death joint events rate in the study group decreased significantly (P <0.05).The percentage of cardiac function NYHA class I to II and the left ventricular ejection fraction in the study group were higher than that in the control group (P <0.05),and the left ventricular end-diastolic diameter was in contrast (P <0.05).The score of Minnesota Living with Heart Failure Questionnaire in the study group was superior to that in the control group (P <0.05 ). Conclusions:The implementation of post-discharge disease management for the patients with chronic heart failure can signifi-cantly reduce the risk of the readmission,the multiple readmission,and the readmission or death joint events within the six months after discharge,and improve the patients’cardiac function and quality of life.
9.The digital artery series and parallel of island flap for repairing degloving injury of the fingertip
Gangyi LIU ; Qinghai FU ; Xiuwen ZHU ; Xiangke RONG ; Zongyi LIU ; Chunxu WANG ; Junquan GOU
Chinese Journal of Microsurgery 2014;37(3):225-228
Objective To investigate the method and effectiveness of the digital artery series and parallel of island flap for repairing degloved injuries of the fingertip of thumb or adjacent finger Methods Between September 2008 and July 2012,the finger artery series retrograde island flaps tiled in the repair of finger degloving injury in 13 cases,repair of adjacent finger tip degloving injury in 11 cases; 8 cases of degloved injuries of the fingertip were tiled with the digital artery parallel island flap from ulnaris middle finger and radialis ring finger of arteria digitalis communis pedicled which were from the same palm side.The size of skin and soft tissue defect ranged from 2.0 cm × 1.8 cm-7.2 cm ×5.5 cm,gutted flap minimum ranged from 1.1 cm × 1.0cm-1.5 cm × 1.3cm,and the maximum ranged from 3.0 cm × 2.2 cm-5.5 cm × 4.5 cm.The donor sites were repaired with the intermediate split thickness free skin grafts and performed with pressure dressing.Results The group of 32 cases,in 1 case the flap vasospasm occurred in operation of free process,the symptoms disappeared after local application of papaverine and hot compress ; 1 case of flap occurred disturbance of blood circulation after operation because of tight suturing for pedicle,the symptoms relieved after removing the stitches at intervals; 2 cases blisters appeared after operation,disappeared after a week.All skin flaps were survived,incision and skin graft donor sites healed by first intention.Twenty patients were followed-up from 6 to 12 months after operation.All flaps presented the satisfactory appearance and texture,recovered protective feeling.At last follow-up,the two-point discrimination was 7 to 10mm,and the flexion and extension function of wounded fingers recovered to normal.According to the functional assessment criteria of upper limb formulated by the Hand Surgery Branch of Chinese Medical Association,there were excellent in 19 cases,good in 10 cases,and moderate in 3 cases.No significant loss to the donor shape and function.Conclusion The surgery by adopted the digital artery series or parallel of island flap for repairing degloved injuries of the fingertip of thumb or adjacent finger,not only has the advantages of simpleness,safety and reliability,but also can satisfy the patients who aren't willing to accept or because of physical reasons can't accept the treatment of abdominal skin tube or nail flap from hallux toe,which performs in both high-end and low level hospitals,and deserves of general application.
10.Comparative Study of Focal Pulmonary Ground Glass Nodule Between Findings of High Resolution CT and Pathology Classiifcation of IASLC/ATS/ERS
Feng PAN ; Zhuo LIU ; Fei YUAN ; Jun WANG ; Kunkun SUN ; Xiangke DU ; Nan HONG
Chinese Journal of Medical Imaging 2014;(11):815-819,823
Purpose To evaluate the correlations between high resolution CT (HRCT) findings and IASLC/ATS/ERS pathological classification of ground glass nodule (GGN). Materials and Methods 121 patients with confirmed GGN were selected, and divided into benign group (22 cases), PIL group (21 cases), microinvasive carcinoma group (26 cases) and invasive carcinoma group (52 cases), then the imaging, pathology and prognosis data of patients with pulmonary GGN were reviewed, and the differences among GGN of different pathological types were analyzed.Results Maximum diameter, margin, vacuole sign, solid component, shape and blood vessels through of GGN were significantly different among the four groups (χ2=9.945-31.068,P<0.05). Maximum diameter and margin were significantly different between invasive adenocarcinoma and other groups (P<0.008); vacuole sign of the benign group was significantly different with other groups (P<0.008); the existence of solid component and shape were significantly different between invasive adenocarcinoma and minimally invasive adenocarcinoma (P<0.008); there was significant difference of blood vessels through between invasive adenocarcinoma and benign lesions (P<0.008). Among the 121 lesions, no metastasis except one invasive adenocarcinoma case complicated with distant metastasis.Conclusion Maximum diameter of GGN greater than 16.35 mm, with spiculation or lobulation represent invasive adenocarcinoma; vacuole sign within the GGN represent malignancy; with solid component and irregular shape can be used to identify invasive adenocarcinoma from minimally invasive adenocarcinoma; while blood vessels through can be used to identify invasive adenocarcinoma from benign lesions; the prognosis of GGNs is well with only 0.83% probability of distant metastasis.

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