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.
2.A study on the efficacy and safety of different radiotherapy doses in treating esophageal squamous cell carcinoma patients aged ≥ 80 years
Ping ZHANG ; Xiaodan WANG ; Wei XIE ; Quanbing SU ; Chanjun ZHEN ; Qiuying AN ; Yuhao SU ; Zhiguo ZHOU
Chinese Journal of Geriatrics 2025;44(6):788-794
Objective:To retrospectively analyze the efficacy and safety of different radiotherapy doses in treating esophageal squamous carcinoma(ESCC)patients aged ≥80 years.Methods:This retrospective study collected clinical data from ESCC patients aged ≥80 years who underwent radiotherapy at the Fourth Hospital of Hebei Medical University from January 2016 to September 2021.Observation variables included overall survival(OS), progression free survival(PFS), complete response(CR), partial response(PR), stable disease(SD), progressive disease(PD), and adverse reactions.Survival rates were estimated using the Kaplan-Meier method and compared via log-rank tests.Cox regression models were employed for multivariate analysis.Results:A total of 165 patients who met the enrollment criteria were included in this study, including 88(88/165, 53.3%)males and 77(77/165, 46.7%)females, age 80 to 100 years(median age 83 years), 66 cases(66/165, 40.0%)in the radiotherapy dose ≥60 Gy group and 99 cases(99/165, 60.0%)in the <60 Gy group.Of the 165 patients, the effective rate was 71.5%(118/165).The median overall survival(OS)of the whole group was 19.0 months, The median Progression Free Survival(PFS)for the whole group was 13 months.The results showed that radiotherapy dose, lesion length, Nutritional Risk Index(NRI), eating condition, recurrence/progression and chemotherapy were factors influencing OS.The survival of patients in the ≥60 Gy group, ≤5 cm group, well-nourished group(NRI ≥45)group, soft diet and general diet group and combined chemotherapy group is better.Cox multivariate analysis revealed that radiotherapy, dose eating condition and the lesion length were independent prognostic factors for OS.The OS rate of the radiation therapy group with a dose of ≥ 60 Gy was better than that of the<60 Gy group( P=0.001), the OS of the general or soft diet group was better than that of the semi liquid or liquid diet group( P=0.008), and the OS of the lesion length ≤ 5 cm group was better than that of the>5 cm group( P=0.020).The incidence rates of radiation-induced esophagitis, myelosuppression, radiation pneumonia, and gastrointestinal reactions in the entire group were 60.0%(99/165), 12.1%(20/165), 22.4%(37/165), and 14.5%(24/165), respectively.51.5%(85/165)of the group experienced local recurrence, 10.3%(17/165)had distant organ metastasis, and 9.1%(15/165)had non regional lymph node metastasis.As of the follow-up date, there were a total of 99 deaths in the entire group. Conclusions:For patients aged 80 years or older with esophageal cancer, higher radiation doses, better feeding and nutritional status have more beneficial for prolonged survival.Local recurrence remains the main reason for treatment failure in elderly patients with esophageal cancer.
3.Research progress in online monitoring technologies for workplace dust concentration
Qiangzhi GUO ; Yuntao MU ; Jinning YU ; Chuntao GE ; Chen WANG ; Zhiguo ZHOU ; Xue JIANG ; Yazhen WANG ; Jinling LIU ; Di LIU ; Shibiao SU
China Occupational Medicine 2025;52(4):472-476
Occupational pneumoconiosis remains the most common occupational disease in China, with occupational mineral dust exposure being its primary causative factor. Although national standards for online monitoring and early warning systems of coal mine dust concentrations have been established, national occupational health standards for rapid and online monitoring of dust concentration and particle size distribution in other industries are still limited. Among dust concentration sensor technologies, the light scattering method is the preferred choice for online dust monitoring owing to its wide measurement range and low cost. The beta-ray absorption method is mature but highly sensitive to humidity. The electrostatic induction method offers high sensitivity, simple structure, and low maintenance costs but exhibits high errors in low-concentration dust monitoring. The tapered element oscillating microbalance method is highly sensitive but costly. Multi-sensor data fusion technology can improve monitoring reliability, however, mature domestic products are not yet available. For monitoring dust particle size distribution, sieving and sedimentation methods are cumbersome. The aerodynamic method shows broad prospects in the online monitoring of respirable dust but has obvious measurement errors for larger dust particles. The use of optical measurement method is limited by dust morphology and is not suitable for monitoring coal dust particle size distribution. The electrical mobility method is primarily applicable to submicron dust. Future research should focus on promoting the application of monitoring technology for respirable dust particle size distribution in online monitoring of industrial dust. By integrating Internet of Things, data mining, and artificial intelligence technologies, along with multi-sensor data fusion and numerical simulation, dust concentration prediction models can be established to achieve accurate dust concentration monitoring and early warning of exceedances. The advancements of technologies will provide scientific support for the assessment of industrial dust hazards and the prevention and control of occupational pneumoconiosis.
4.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
;
Preimplantation Diagnosis/methods*
;
Female
;
DNA, Mitochondrial/genetics*
;
Genetic Testing/methods*
;
Pregnancy
;
Mitochondrial Diseases/genetics*
;
Polar Bodies
;
Adult
;
Feasibility Studies
;
Sperm Injections, Intracytoplasmic/methods*
;
Embryo Transfer/methods*
;
Mutation
;
Male
;
Blastocyst/metabolism*
;
Pedigree
5.Clinical application of pelvic floor en bloc resection in combined pelvic organ resection for locally advanced or locally recurrent rectal cancer
Guoliang CHEN ; Yao LU ; Ruoxin ZHANG ; Ning SU ; Zhiguo WANG ; Guoyi SHAO ; Jian ZHANG
Chinese Journal of Gastrointestinal Surgery 2025;28(7):743-750
Objective:To explore the feasibility, safety, and short-term efficacy of a total pelvic floor resection procedure as a component of combined resection of pelvic organs for locally advanced or locally recurrent rectal cancer.Methods:This was a descriptive case series. Relevant clinical data of patients with locally advanced or locally recurrent rectal cancer without extrapelvic metastasis or with only oligometastasis who had undergone combined pelvic organ resection with resection of the entire pelvic floor in the Department of Anorectal Surgery of the Second Affiliated Hospital of Naval Medical University from 1 January 2023 to 30 June 2024 were collected from a Chinese database of combined pelvic organ resection for rectal cancer. The study cohort comprised 143 patients, 74 of whom were male (51.7%) and 69 were female (48.3%); their ages averaged 54 (range: 31–75) years; 57 of the patients (39.9%) had locally advanced rectal cancer and 86 (60.1%) locally recurrent rectal cancer. In our institution, the pelvic floor is categorized into two anatomical layers: the levator ani/presacral anterior tissue, and the bone/ligament/pelvic floor soft tissue. The entire pelvic floor was resected en bloc after making incisions on both sides of the pelvic floor, followed by presacral sacral dissection, and abdominoperineal dissection of the anterior side of the pelvic floor. The main factors studied were related to the following: (1) surgical conditions, comprising the scope of surgical resection, operation time, intraoperative blood loss, tissue reconstruction; (2) postoperative recovery, comprising time to recovery of intestinal function, time to removal of drainage tubes, and time to healing of the empty pelvic cavity; and (3) postoperative complications, classified according to the international Clavien-Dindo classification. Results:Combined pelvic organ resection with entire pelvic floor resection was successfully completed in all patients. The operation time was 480 (390 to 1,020) minutes, intraoperative blood loss 800 (50 to 3,500) mL, and volume of blood transfused intraoperatively 1, 000 (400 to 7, 400). R0 resection was achieved in 116 cases (81.1%) and R1 resection in 27 (18.9%). The first layer of the pelvic floor wall (levator ani/sacral anterior tissue) was resected in 79 cases (55.2%) and the second layer of the pelvic floor wall (bone/ligament/pelvic floor soft tissue) in 64 (44.8%). The procedure was completed in the lithotomy position in 114 cases (79.7%) were and in the lithotomy + prone jackknife position in 29 (20.3%). The pelvic floor was reconstructed with mesh in 140 cases (97.7%) and with mesh plus pedicled omental flaps in 92 cases (64.3%). The urinary tract was reconstructed in 92 cases (64.3%). The time to recovery of intestinal function was 3.6 (2.0 to 7.0) days, to removal of drainage tubes 29.4 (24.0 to 54.0) days, and to healing of the empty pelvic cavity 36.2 (27.0 to 56.0) days. Twenty-three patients (16.1%) had Grade I - II complications and 36 (25.2%) Grade IIIa - IV complications. The median duration of follow-up was 15.5 (0.5 to 30.0) months. Six of the patients (4.2%) died, including two (1.4%) who died within 30 days after surgery.Conclusions:Pelvic floor en bloc resection has a high R0 resection rate and is a safe and feasible procedure for pelvic organ resection surgeries in patients with locally advanced or locally recurrent rectal cancer.
6.Pelvic floor reconstruction with gluteus maximus myocutaneous flap in the treatment of perineal wound healing failure after pelvic exenteration
Yu TAO ; Yulu WANG ; Lie ZHU ; Zhiguo WANG ; Ning SU ; Jian ZHANG
Chinese Journal of Gastrointestinal Surgery 2025;28(1):81-85
Objective:To investigate the value of pelvic floor reconstruction with gluteus maximus myocutaneous flap in second-stage surgery for patients with failed perineal wound healing after pelvic exenteration (PE).Methods:This was a descriptive case series study. The clinical data of 24 patients with locally advanced (LARC) or recurrent (LRRC) rectal cancer who underwent PE and had long-term nonunion of postoperative perineal wounds were collected from the department of colorectal surgery of the Second Affiliated Hospital of Navy Medical University (Shanghai Changzheng Hospital) from January 2022 to January 2023. The specific operation methods of pelvic reconstruction by gluteus maximus myocutaneous flap are as follows: the necrotic tissue of the perineal wound was debrided and rinsed repeatedly, the gluteus maximus muscle was cut and separated from the gluteus superior and inferior arteries, the middle muscle pedicle was retained, part of the skin and muscle were separated from the medial margin, part of the epidermis was removed, the muscle and subcutaneous tissue at the medial margin of the flap were fixed to the medial edge of the wound, negative pressure suction tubes were placed above and below the wound cavity and in the muscle space on the right side, and the subcutaneous muscle and fat layer were sutured. The skin was sutured intersegmentally, and a negative pressure suction device was placed on the wound surface. After surgery, the patient should remain prone, and the drainage tube should be placed for at least 7 days. The drainage tube can be removed after 24-hour drainage is less than 30 ml. Perineal wound healing and complications related to gluteal major myocutaneous flap were observed.Result:The median reconstruction time of 24 patients was 180 (150 ~ 230) minutes, and the median intraoperative blood loss was 100 (30 ~ 200) ml. 91.7% (22/24) patients had successful healing of perineal wound within 30 d after operation. After a follow-up of 6 months, no complete or partial flap necrosis occurred. The incidence of complications related to gluteus maximus myocutaneous flap was 8.3% (2/24). One patient had flap infection and sinus tract, and one patient had flap sinus tract. All patients healed after debridement under local anesthesia.Conclusion:For LARC/LRRC patients with poor perineal wound healing after PE, pelvic floor reconstruction with gluteus maximus myocutaneous flap in second-stage operation is safe and feasible, and could successfully close the perineal wound, and has a low incidence of postoperative flap-related complications.
7.Clinical application of pelvic floor en bloc resection in combined pelvic organ resection for locally advanced or locally recurrent rectal cancer
Guoliang CHEN ; Yao LU ; Ruoxin ZHANG ; Ning SU ; Zhiguo WANG ; Guoyi SHAO ; Jian ZHANG
Chinese Journal of Gastrointestinal Surgery 2025;28(7):743-750
Objective:To explore the feasibility, safety, and short-term efficacy of a total pelvic floor resection procedure as a component of combined resection of pelvic organs for locally advanced or locally recurrent rectal cancer.Methods:This was a descriptive case series. Relevant clinical data of patients with locally advanced or locally recurrent rectal cancer without extrapelvic metastasis or with only oligometastasis who had undergone combined pelvic organ resection with resection of the entire pelvic floor in the Department of Anorectal Surgery of the Second Affiliated Hospital of Naval Medical University from 1 January 2023 to 30 June 2024 were collected from a Chinese database of combined pelvic organ resection for rectal cancer. The study cohort comprised 143 patients, 74 of whom were male (51.7%) and 69 were female (48.3%); their ages averaged 54 (range: 31–75) years; 57 of the patients (39.9%) had locally advanced rectal cancer and 86 (60.1%) locally recurrent rectal cancer. In our institution, the pelvic floor is categorized into two anatomical layers: the levator ani/presacral anterior tissue, and the bone/ligament/pelvic floor soft tissue. The entire pelvic floor was resected en bloc after making incisions on both sides of the pelvic floor, followed by presacral sacral dissection, and abdominoperineal dissection of the anterior side of the pelvic floor. The main factors studied were related to the following: (1) surgical conditions, comprising the scope of surgical resection, operation time, intraoperative blood loss, tissue reconstruction; (2) postoperative recovery, comprising time to recovery of intestinal function, time to removal of drainage tubes, and time to healing of the empty pelvic cavity; and (3) postoperative complications, classified according to the international Clavien-Dindo classification. Results:Combined pelvic organ resection with entire pelvic floor resection was successfully completed in all patients. The operation time was 480 (390 to 1,020) minutes, intraoperative blood loss 800 (50 to 3,500) mL, and volume of blood transfused intraoperatively 1, 000 (400 to 7, 400). R0 resection was achieved in 116 cases (81.1%) and R1 resection in 27 (18.9%). The first layer of the pelvic floor wall (levator ani/sacral anterior tissue) was resected in 79 cases (55.2%) and the second layer of the pelvic floor wall (bone/ligament/pelvic floor soft tissue) in 64 (44.8%). The procedure was completed in the lithotomy position in 114 cases (79.7%) were and in the lithotomy + prone jackknife position in 29 (20.3%). The pelvic floor was reconstructed with mesh in 140 cases (97.7%) and with mesh plus pedicled omental flaps in 92 cases (64.3%). The urinary tract was reconstructed in 92 cases (64.3%). The time to recovery of intestinal function was 3.6 (2.0 to 7.0) days, to removal of drainage tubes 29.4 (24.0 to 54.0) days, and to healing of the empty pelvic cavity 36.2 (27.0 to 56.0) days. Twenty-three patients (16.1%) had Grade I - II complications and 36 (25.2%) Grade IIIa - IV complications. The median duration of follow-up was 15.5 (0.5 to 30.0) months. Six of the patients (4.2%) died, including two (1.4%) who died within 30 days after surgery.Conclusions:Pelvic floor en bloc resection has a high R0 resection rate and is a safe and feasible procedure for pelvic organ resection surgeries in patients with locally advanced or locally recurrent rectal cancer.
8.Pelvic floor reconstruction with gluteus maximus myocutaneous flap in the treatment of perineal wound healing failure after pelvic exenteration
Yu TAO ; Yulu WANG ; Lie ZHU ; Zhiguo WANG ; Ning SU ; Jian ZHANG
Chinese Journal of Gastrointestinal Surgery 2025;28(1):81-85
Objective:To investigate the value of pelvic floor reconstruction with gluteus maximus myocutaneous flap in second-stage surgery for patients with failed perineal wound healing after pelvic exenteration (PE).Methods:This was a descriptive case series study. The clinical data of 24 patients with locally advanced (LARC) or recurrent (LRRC) rectal cancer who underwent PE and had long-term nonunion of postoperative perineal wounds were collected from the department of colorectal surgery of the Second Affiliated Hospital of Navy Medical University (Shanghai Changzheng Hospital) from January 2022 to January 2023. The specific operation methods of pelvic reconstruction by gluteus maximus myocutaneous flap are as follows: the necrotic tissue of the perineal wound was debrided and rinsed repeatedly, the gluteus maximus muscle was cut and separated from the gluteus superior and inferior arteries, the middle muscle pedicle was retained, part of the skin and muscle were separated from the medial margin, part of the epidermis was removed, the muscle and subcutaneous tissue at the medial margin of the flap were fixed to the medial edge of the wound, negative pressure suction tubes were placed above and below the wound cavity and in the muscle space on the right side, and the subcutaneous muscle and fat layer were sutured. The skin was sutured intersegmentally, and a negative pressure suction device was placed on the wound surface. After surgery, the patient should remain prone, and the drainage tube should be placed for at least 7 days. The drainage tube can be removed after 24-hour drainage is less than 30 ml. Perineal wound healing and complications related to gluteal major myocutaneous flap were observed.Result:The median reconstruction time of 24 patients was 180 (150 ~ 230) minutes, and the median intraoperative blood loss was 100 (30 ~ 200) ml. 91.7% (22/24) patients had successful healing of perineal wound within 30 d after operation. After a follow-up of 6 months, no complete or partial flap necrosis occurred. The incidence of complications related to gluteus maximus myocutaneous flap was 8.3% (2/24). One patient had flap infection and sinus tract, and one patient had flap sinus tract. All patients healed after debridement under local anesthesia.Conclusion:For LARC/LRRC patients with poor perineal wound healing after PE, pelvic floor reconstruction with gluteus maximus myocutaneous flap in second-stage operation is safe and feasible, and could successfully close the perineal wound, and has a low incidence of postoperative flap-related complications.
9.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.
10.A study on the efficacy and safety of different radiotherapy doses in treating esophageal squamous cell carcinoma patients aged ≥ 80 years
Ping ZHANG ; Xiaodan WANG ; Wei XIE ; Quanbing SU ; Chanjun ZHEN ; Qiuying AN ; Yuhao SU ; Zhiguo ZHOU
Chinese Journal of Geriatrics 2025;44(6):788-794
Objective:To retrospectively analyze the efficacy and safety of different radiotherapy doses in treating esophageal squamous carcinoma(ESCC)patients aged ≥80 years.Methods:This retrospective study collected clinical data from ESCC patients aged ≥80 years who underwent radiotherapy at the Fourth Hospital of Hebei Medical University from January 2016 to September 2021.Observation variables included overall survival(OS), progression free survival(PFS), complete response(CR), partial response(PR), stable disease(SD), progressive disease(PD), and adverse reactions.Survival rates were estimated using the Kaplan-Meier method and compared via log-rank tests.Cox regression models were employed for multivariate analysis.Results:A total of 165 patients who met the enrollment criteria were included in this study, including 88(88/165, 53.3%)males and 77(77/165, 46.7%)females, age 80 to 100 years(median age 83 years), 66 cases(66/165, 40.0%)in the radiotherapy dose ≥60 Gy group and 99 cases(99/165, 60.0%)in the <60 Gy group.Of the 165 patients, the effective rate was 71.5%(118/165).The median overall survival(OS)of the whole group was 19.0 months, The median Progression Free Survival(PFS)for the whole group was 13 months.The results showed that radiotherapy dose, lesion length, Nutritional Risk Index(NRI), eating condition, recurrence/progression and chemotherapy were factors influencing OS.The survival of patients in the ≥60 Gy group, ≤5 cm group, well-nourished group(NRI ≥45)group, soft diet and general diet group and combined chemotherapy group is better.Cox multivariate analysis revealed that radiotherapy, dose eating condition and the lesion length were independent prognostic factors for OS.The OS rate of the radiation therapy group with a dose of ≥ 60 Gy was better than that of the<60 Gy group( P=0.001), the OS of the general or soft diet group was better than that of the semi liquid or liquid diet group( P=0.008), and the OS of the lesion length ≤ 5 cm group was better than that of the>5 cm group( P=0.020).The incidence rates of radiation-induced esophagitis, myelosuppression, radiation pneumonia, and gastrointestinal reactions in the entire group were 60.0%(99/165), 12.1%(20/165), 22.4%(37/165), and 14.5%(24/165), respectively.51.5%(85/165)of the group experienced local recurrence, 10.3%(17/165)had distant organ metastasis, and 9.1%(15/165)had non regional lymph node metastasis.As of the follow-up date, there were a total of 99 deaths in the entire group. Conclusions:For patients aged 80 years or older with esophageal cancer, higher radiation doses, better feeding and nutritional status have more beneficial for prolonged survival.Local recurrence remains the main reason for treatment failure in elderly patients with esophageal cancer.

Result Analysis
Print
Save
E-mail