1.Study of the feasibility of polar body transfer combined with preimplantation genetic testing for blocking the intergenerational transmission of mitochondrial genetic diseases.
Dongmei JI ; Zhikang ZHANG ; Weiwei ZOU ; Ning ZHANG ; Kai ZONG ; Yinan DU ; Xun SU ; Xin WANG ; Dawei CHEN ; Chunmei LIANG ; Zhiguo ZHANG ; Yunxia CAO
Chinese Journal of Medical Genetics 2025;42(1):18-25
OBJECTIVE:
To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation.
METHODS:
A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members. Mature MII oocytes were inseminated by intracytoplasmic sperm injection (ICSI), cultured in vitro for 5 to 6 days to the blastocyst stage, and trophoblastocytes were obtained by microbiopsy. Mitochondrial DNA testing (PGT-MT) and chromosomal aneuploidy (PGT-A) analyses were carried out after whole-genome amplification, and the embryos with zero mutation load were selected for transfer. Amniotic fluid and umbilical cord blood samples were collected during middle pregnancy and after birth respectively for mitochondrial DNA testing to verify the reliability of embryo screening. As an attempt, PB1 with good morphology of MII oocytes was selected for transfer into the enucleated oocytoplasm from healthy donors, followed by ICSI fertilization, blastocyst culture and PGT of embryos using the same procedure. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Anhui Medical University (No. 2021zhyx-B12).
RESULTS:
An antagonist protocol was used for ovarian stimulation, and a total of 19 oocytes were obtained, of which 14 MII were fertilized by ICSI, and 2 had developed into blastocysts. PGT-MT was carried out on biopsied trophoblastocytes, in which the mitochondrial DNA 8993T>G mutation load was not detected in one embryo, the other was 100% mutated, and the mutation loads of the remaining unfertilized eggs and developmentally arrested embryos ranged from 0% ~ 100%, presenting a clear biased distribution. With fully informed consent, one PGT-MT zero mutation load blastocyst was transferred and clinical pregnancy was achieved. Mitochondrial DNA and chromosomal testing of amniotic fluid cells during middle pregnancy had revealed no abnormalities. The proband had delivered a healthy boy through Caesarean section at 39+5 weeks of gestation, and no mutation was detected in the cord blood sample. Five well-formed PBs from 14 eggs were selected for PB1 transfer, followed by ICSI and culture, and two of the reconstituted embryos had formed blastocysts, with none of the above mutations detected in the biopsied samples.
CONCLUSION
The PGT-MT technology can help families affected with mitochondrial diseases to have healthy offspring. PB1 transfer in combination with ICSI and PGT-MT holds the promise of turning waste into treasure and providing an alternative means of fertility for such families.
Humans
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Preimplantation Diagnosis/methods*
;
Female
;
DNA, Mitochondrial/genetics*
;
Genetic Testing/methods*
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Pregnancy
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Mitochondrial Diseases/genetics*
;
Polar Bodies
;
Adult
;
Feasibility Studies
;
Sperm Injections, Intracytoplasmic/methods*
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Embryo Transfer/methods*
;
Mutation
;
Male
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Blastocyst/metabolism*
;
Pedigree
2.Study of the feasibility of polar body transfer combined with preimplantation genetic testing for blocking the intergenerational transmission of mitochondrial genetic diseases
Dongmei JI ; Zhikang ZHANG ; Weiwei ZOU ; Ning ZHANG ; Kai ZONG ; Yinan DU ; Xun SU ; Xin WANG ; Dawei CHEN ; Chunmei LIANG ; Zhiguo ZHANG ; Yunxia CAO
Chinese Journal of Medical Genetics 2025;42(1):18-25
Objective:To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation.Methods:A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members. Mature MII oocytes were inseminated by intracytoplasmic sperm injection (ICSI), cultured in vitro for 5 to 6 days to the blastocyst stage, and trophoblastocytes were obtained by microbiopsy. Mitochondrial DNA testing (PGT-MT) and chromosomal aneuploidy (PGT-A) analyses were carried out after whole-genome amplification, and the embryos with zero mutation load were selected for transfer. Amniotic fluid and umbilical cord blood samples were collected during middle pregnancy and after birth respectively for mitochondrial DNA testing to verify the reliability of embryo screening. As an attempt, PB1 with good morphology of MⅡ oocytes was selected for transfer into the enucleated oocytoplasm from healthy donors, followed by ICSI fertilization, blastocyst culture and PGT of embryos using the same procedure. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Anhui Medical University (No. 2021zhyx-B12). Results:An antagonist protocol was used for ovarian stimulation, and a total of 19 oocytes were obtained, of which 14 MⅡ were fertilized by ICSI, and 2 had developed into blastocysts. PGT-MT was carried out on biopsied trophoblastocytes, in which the mitochondrial DNA 8993T>G mutation load was not detected in one embryo, the other was 100% mutated, and the mutation loads of the remaining unfertilized eggs and developmentally arrested embryos ranged from 0% ~ 100%, presenting a clear biased distribution. With fully informed consent, one PGT-MT zero mutation load blastocyst was transferred and clinical pregnancy was achieved. Mitochondrial DNA and chromosomal testing of amniotic fluid cells during middle pregnancy had revealed no abnormalities. The proband had delivered a healthy boy through Caesarean section at 39+ 5 weeks of gestation, and no mutation was detected in the cord blood sample. Five well-formed PBs from 14 eggs were selected for PB1 transfer, followed by ICSI and culture, and two of the reconstituted embryos had formed blastocysts, with none of the above mutations detected in the biopsied samples.Conclusion:The PGT-MT technology can help families affected with mitochondrial diseases to have healthy offspring. PB1 transfer in combination with ICSI and PGT-MT holds the promise of turning waste into treasure and providing an alternative means of fertility for such families.
3.Study of the feasibility of polar body transfer combined with preimplantation genetic testing for blocking the intergenerational transmission of mitochondrial genetic diseases
Dongmei JI ; Zhikang ZHANG ; Weiwei ZOU ; Ning ZHANG ; Kai ZONG ; Yinan DU ; Xun SU ; Xin WANG ; Dawei CHEN ; Chunmei LIANG ; Zhiguo ZHANG ; Yunxia CAO
Chinese Journal of Medical Genetics 2025;42(1):18-25
Objective:To assess the feasibility of first polar body transfer (PB1T) combined with preimplantation mitochondrial genetic testing for blocking the transmission of a pathogenic mitochondrial DNA 8993T>G mutation.Methods:A Chinese family affected with Leigh syndrome which had attended the Reproductive Medicine Centre of the First Affiliated Hospital of Anhui Medical University in September 2021 was selected as the study subject. Controlled ovarian hyperstimulation was carried out for the proband after completing the detection of the mitochondrial DNA 8993T>G mutation load among the pedigree members. Mature MII oocytes were inseminated by intracytoplasmic sperm injection (ICSI), cultured in vitro for 5 to 6 days to the blastocyst stage, and trophoblastocytes were obtained by microbiopsy. Mitochondrial DNA testing (PGT-MT) and chromosomal aneuploidy (PGT-A) analyses were carried out after whole-genome amplification, and the embryos with zero mutation load were selected for transfer. Amniotic fluid and umbilical cord blood samples were collected during middle pregnancy and after birth respectively for mitochondrial DNA testing to verify the reliability of embryo screening. As an attempt, PB1 with good morphology of MⅡ oocytes was selected for transfer into the enucleated oocytoplasm from healthy donors, followed by ICSI fertilization, blastocyst culture and PGT of embryos using the same procedure. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Anhui Medical University (No. 2021zhyx-B12). Results:An antagonist protocol was used for ovarian stimulation, and a total of 19 oocytes were obtained, of which 14 MⅡ were fertilized by ICSI, and 2 had developed into blastocysts. PGT-MT was carried out on biopsied trophoblastocytes, in which the mitochondrial DNA 8993T>G mutation load was not detected in one embryo, the other was 100% mutated, and the mutation loads of the remaining unfertilized eggs and developmentally arrested embryos ranged from 0% ~ 100%, presenting a clear biased distribution. With fully informed consent, one PGT-MT zero mutation load blastocyst was transferred and clinical pregnancy was achieved. Mitochondrial DNA and chromosomal testing of amniotic fluid cells during middle pregnancy had revealed no abnormalities. The proband had delivered a healthy boy through Caesarean section at 39+ 5 weeks of gestation, and no mutation was detected in the cord blood sample. Five well-formed PBs from 14 eggs were selected for PB1 transfer, followed by ICSI and culture, and two of the reconstituted embryos had formed blastocysts, with none of the above mutations detected in the biopsied samples.Conclusion:The PGT-MT technology can help families affected with mitochondrial diseases to have healthy offspring. PB1 transfer in combination with ICSI and PGT-MT holds the promise of turning waste into treasure and providing an alternative means of fertility for such families.
4.Analysis on the application of cone contrast test in Air Force pilot recruitment
Linsong QI ; Zhuo CHEN ; Lu YAO ; Yan TANG ; Xiaohua WANG ; Chen ZHAO ; Xuefeng WANG ; Dongrui YU ; Yong LIU ; Zhikang ZOU
Chinese Journal of Aerospace Medicine 2024;35(3):219-222
Objective:To explore the feasibility and conformity of cone contrast test (CCT) and pseudoisochromatic plate test applied in medical selection of pilot.Methods:One hundred and sixteen male students were selected from pilot candidates by stratified sampling method. All students were tested the pseudoisochromatic plate test and the red, green, and blue cone contrast sensitivity and were divided into normal group, color weakness group and color blindness group according to the results of the pseudoisochromatic plate test. The students with a CCT score below 75 were judged as color vision anomalopia. The coincidence rates of the 2 detection results were compared and analyzed.Results:There were 76 students in normal group, 9 students in color weakness group and 31 students in color blindness group. Students with color vision abnormalities were mainly characterized by red-green color blindness and green color weakness, manifested by a significant decrease in CCT scores of red and green ( P=0.012 or <0.001), but there was no significant difference in the blue CCT scores among 3 groups (both P>0.05). The CCT scores of normal students were not less than 75 points, which meant that the compliance rate was 100%. The proportion of students in the color blindness group below 75 points was 29/31 (with a conformity rate of 93.5%), while the proportion in the color weakness group was 2/9. Conclusions:The conclusions of CCT and pseudoisochromatic plate test for identifying color blindness and normal students are basically consistent, but the conformity rate for identifying color weakness assessment by pseudoisochromatic plate test is relatively low. It is suggested that CCT would be the complement for identifying color weakness and marginal color vision abnormalities in the medical selection for pilot.
5.Analysis on the application of cone contrast test in Air Force pilot recruitment
Linsong QI ; Zhuo CHEN ; Lu YAO ; Yan TANG ; Xiaohua WANG ; Chen ZHAO ; Xuefeng WANG ; Dongrui YU ; Yong LIU ; Zhikang ZOU
Chinese Journal of Aerospace Medicine 2024;35(3):219-222
Objective:To explore the feasibility and conformity of cone contrast test (CCT) and pseudoisochromatic plate test applied in medical selection of pilot.Methods:One hundred and sixteen male students were selected from pilot candidates by stratified sampling method. All students were tested the pseudoisochromatic plate test and the red, green, and blue cone contrast sensitivity and were divided into normal group, color weakness group and color blindness group according to the results of the pseudoisochromatic plate test. The students with a CCT score below 75 were judged as color vision anomalopia. The coincidence rates of the 2 detection results were compared and analyzed.Results:There were 76 students in normal group, 9 students in color weakness group and 31 students in color blindness group. Students with color vision abnormalities were mainly characterized by red-green color blindness and green color weakness, manifested by a significant decrease in CCT scores of red and green ( P=0.012 or <0.001), but there was no significant difference in the blue CCT scores among 3 groups (both P>0.05). The CCT scores of normal students were not less than 75 points, which meant that the compliance rate was 100%. The proportion of students in the color blindness group below 75 points was 29/31 (with a conformity rate of 93.5%), while the proportion in the color weakness group was 2/9. Conclusions:The conclusions of CCT and pseudoisochromatic plate test for identifying color blindness and normal students are basically consistent, but the conformity rate for identifying color weakness assessment by pseudoisochromatic plate test is relatively low. It is suggested that CCT would be the complement for identifying color weakness and marginal color vision abnormalities in the medical selection for pilot.
6.Application Status and Prospect of Rehabilitation Assessment Technology.
Tianhai HUANG ; Quchao ZOU ; Yonghua CHU ; Kun ZHENG ; Zhikang WANG
Chinese Journal of Medical Instrumentation 2023;47(3):298-303
Rehabilitation assessment is the basis and important part of rehabilitation diagnosis and treatment. At present, clinical evaluation is usually carried out by observation method and scale method. At the same time, researchers monitor patients' physical condition data through sensor system and other equipment as a supplement. The purpose of this study is to review the application and development of objective rehabilitation assessment technology in clinical practice, and to discuss its limitations and strategies to provide reference for related research.
Humans
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Technology
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Rehabilitation
7.Effect of 6 week neck eccentric training on neck function of college students
JIA Xueshu, WANG Anli, ZOU Zhikang, LI Bo, LUO Hao, ZHANG Enming
Chinese Journal of School Health 2022;43(8):1170-1173
Objective:
To investigate the effect of cervical eccentric training on neck function of college students, and to provide basis for cervical spondylosis prevention.
Methods:
Fifty two students from a medical college in Shanxi Province were recruited. Participants were divided into the neck eccentric training intervention group and the control group according to the random number table method, after stratified by sex. The intervention group received training for 25 min each time, 3 times a week for 6 weeks, and the control group received neck health education. Neck circumference, strength, range of motion, endurance and head and neck posture were measured before and after intervention.
Results:
The interaction of strength anterior flexion, extension left fiexion and right flexion was significant( F=34.25, 55.96, 56.49, 37.13, P <0.05). After 6 weeks, the strength of the intervention group was anterior flexion(65.37±18.64)N, extension(87.61±21.38)N, left flexion(55.80±12.04)N, right flexion(55.87±11.83)N. After 6 weeks, the strength of the control group were (45.69±9.25), (53.34±9.45), (41.60±6.96) and(42.20±9.92)N, which were significantly lower compared to the intervention group( t =4.82, 7.48, 5.21, 4.52, P <0.01). The interaction of motion of anterior flexion, extension, left flexion and right flexion were significant( F=11.62, 8.83, 8.29, 6.57, P <0.05). After 6 weeks, the motion of intervention group had anterior flexion(53.54±7.28)°, extension(57.42±7.37)°, left flexion(40.77±4.14)°, right flexion(85.12± 6.35 )°. The corresponding motion levels of the control group were(45.35±9.55)°,(50.85±7.56)°,(37.19±5.86)°,(76.15±7.86)°. The intervention group was significantly higher than the control group( t=3.48, 3.18, 2.54, 4.52, P <0.05). Main effects on time were observed in neck circumference, right flexion and left rotation motion, neck endurance and head extension angle( F =15.79, 13.94, 35.90, 10.17, 8.61, P <0.05).
Conclusion
Six week neck eccentric training can significantly improve neck strength and range of motion, as well as neck circumference, neck endurance and head forward posture.
8.Meta-analysis of disease spectrum in Chinese fighter pilots
Fancheng MENG ; Yong HAN ; Peng LIANG ; Yanlu XIONG ; Jinbo ZHAO ; Jie LEI ; Yangbo FENG ; Tianyun QIAO ; Yongsheng ZHOU ; Huaiyu WANG ; Tao JIANG ; Zhikang ZOU
Chinese Journal of Aerospace Medicine 2021;32(2):92-98
Objective:To discuss the characteristics of common diseases of fighter pilots and provide evidence and support for improving the health level and combat capabilities of Chinese fighter pilots by the Meta-analysis of disease spectrum.Methods:The information of disease spectrum of Chinese fighter pilots was extracted from the literatures collected by SinoMed, China Academic Journal Network Publishing Database, China Scientific Journal Database, Wanfang Data and PubMed before December of 2020. STATA 16 and SPSS 26 software were used to make system evaluation for the constituent ratio of single disease, and the diseases were analyzed in subgroups by years.Results:Seventeen literatures, that published from 2002 to 2020, were collected for Meta-analysis and 9 431 persons were involved (aged from 20 to 60 years) based on the statistical analysis from 1965 to 2019. The results indicated metabolic diseases, spinal diseases, aviation occupational diseases, hepatobiliary diseases, etc.. The Meta-analysis showed that the proportion of spinal diseases was 29.5% (95 %CI was 20.8%~38.2%, I2=99.0%), metabolic diseases was 22.2% (95 %CI was 12.5%~31.8%, I2=99.5%), valvulopathy and arrhythmia was 15.1% (95 %CI was 7.3%~22.8%, I2=97.0%), aviation occupational diseases was 14.3% (95 %CI was 8.2%~20.4%, I2=94.4%), hepatobiliary diseases was 10.5% (95 %CI was 5.4%~15.5%, I2=98.9%) and gastrointestinal diseases was 8.4% (95 %CI was 5.5%~11.3%, I2=94.0%) in Chinese fighter pilots. Conclusions:The metabolic diseases, spinal diseases and hepatobiliary diseases are accounted for a relatively higher proportion among Chinese fighter pilots, and corresponding protective measures should be taken to improve the health level of pilots through the work of medical support departments at all levels.
9.Meta-analysis of disease spectrum in Chinese fighter pilots
Fancheng MENG ; Yong HAN ; Peng LIANG ; Yanlu XIONG ; Jinbo ZHAO ; Jie LEI ; Yangbo FENG ; Tianyun QIAO ; Yongsheng ZHOU ; Huaiyu WANG ; Tao JIANG ; Zhikang ZOU
Chinese Journal of Aerospace Medicine 2021;32(2):92-98
Objective:To discuss the characteristics of common diseases of fighter pilots and provide evidence and support for improving the health level and combat capabilities of Chinese fighter pilots by the Meta-analysis of disease spectrum.Methods:The information of disease spectrum of Chinese fighter pilots was extracted from the literatures collected by SinoMed, China Academic Journal Network Publishing Database, China Scientific Journal Database, Wanfang Data and PubMed before December of 2020. STATA 16 and SPSS 26 software were used to make system evaluation for the constituent ratio of single disease, and the diseases were analyzed in subgroups by years.Results:Seventeen literatures, that published from 2002 to 2020, were collected for Meta-analysis and 9 431 persons were involved (aged from 20 to 60 years) based on the statistical analysis from 1965 to 2019. The results indicated metabolic diseases, spinal diseases, aviation occupational diseases, hepatobiliary diseases, etc.. The Meta-analysis showed that the proportion of spinal diseases was 29.5% (95 %CI was 20.8%~38.2%, I2=99.0%), metabolic diseases was 22.2% (95 %CI was 12.5%~31.8%, I2=99.5%), valvulopathy and arrhythmia was 15.1% (95 %CI was 7.3%~22.8%, I2=97.0%), aviation occupational diseases was 14.3% (95 %CI was 8.2%~20.4%, I2=94.4%), hepatobiliary diseases was 10.5% (95 %CI was 5.4%~15.5%, I2=98.9%) and gastrointestinal diseases was 8.4% (95 %CI was 5.5%~11.3%, I2=94.0%) in Chinese fighter pilots. Conclusions:The metabolic diseases, spinal diseases and hepatobiliary diseases are accounted for a relatively higher proportion among Chinese fighter pilots, and corresponding protective measures should be taken to improve the health level of pilots through the work of medical support departments at all levels.
10.Exploration on the emergency support mode of hospital medical supplies against COVID-19
Yonghua CHU ; Quchao ZOU ; Huiling XIE ; Yue YING ; Fen ZHAO ; Jinjiang JIN ; Tanhai HUANG ; Shuying SUN ; Yiwen WANG ; Hong LIU ; Zhikang WANG
Chinese Journal of Hospital Administration 2020;36(4):345-348
Since the outbreak of COVID-19, the hospital is faced with such challenges as sustained input in patient screening, referral and rescue, supportive medical supplies including the management of personal protective supplies and the maintenance of medical equipment. In the face of increasing workload, the medical materials support team of the hospital took the following measures in the principles of " discovering new sources of supplies and minimizing consumption" . These measures taken include proactive supply procurement strategy, prioritizing allocations based on risk exposure, uniform distribution of supplies based on inventory and usage, and traceable management for donated supplies; optimal and central deployment of equipments, emergency installation, pre-maintenance and emergency repairs for equipments; efficient and safe sterilization of reusable materials and equipments using sterilizers; enhanced personnel training and management to keep updating the medical supplies capacity of the team. All these efforts have contributed significantly to the orderly work of epidemic control.


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