BACKGROUND Thrombophilia contributes to a significant increased risk of venous thromboembolism and can be either inherited or acquired.Hereditary thrombophilia may arise from various gene mutations,some of which have ...BACKGROUND Thrombophilia contributes to a significant increased risk of venous thromboembolism and can be either inherited or acquired.Hereditary thrombophilia may arise from various gene mutations,some of which have not even been adequately reported or poorly understood.Previous studies reported a rare and novel missense mutation in the prothrombin gene(p.Arg596Gln),known as prothrombin Belgrade.The mechanisms and therapeutic strategies associated with prothrombin Belgrade mutation have not been fully elucidated.CASE SUMMARY We present the case of a 26-year-old woman with recurrent systemic thrombosis induced by prothrombin Belgrade mutation.The patient suffered from cerebral venous sinus thrombosis that rapidly progressed to systemic thrombosis,alongside a family history of cerebral thrombosis,and no traditional risk factors or abnormal coagulation function.Whole-genome sequencing detected a novel and rare heterozygous prothrombin missense mutation,c.1787G>T(p.Arg596Gln),which was responsible for the major etiology of the systemic thrombosis.CONCLUSION This case strengthens our understanding about hereditary basis of thrombophilia and provokes considerations for therapeutic options on prothrombin Belgrade mutation.展开更多
Colorectal cancer remains the third most common malignancy worldwide. According to the principles of Traditional Chinese Medicine (TCM), colorectal cancer is related to spleen-deficiency, damp-heat, and toxicity accum...Colorectal cancer remains the third most common malignancy worldwide. According to the principles of Traditional Chinese Medicine (TCM), colorectal cancer is related to spleen-deficiency, damp-heat, and toxicity accumulation. Traditional Chinese medicine has been confirmed to effectively reduce toxic side effects and enhance curative effects of chemotherapy, palliate clinical syndrome, prevent recurrence and metastasis, improve quality of life and immune function, and prolong survival time in colorectal cancer. However, TCM theoretical and syndrome differentiation study has lagged far behind due to progression of therapy model in colorectal cancer. As a type of drug treatment, there are some common biological basis between chemotherapy, targeted therapy and anti-cancer herb therapy in colorectal cancer, such as apoptosis, cell senescence and autophagy. There are growing needs to explore the effect mechanism and compatibility of anti-cancer herbs, to further enhance the efficacy of TCM treatment in colorectal cancer.展开更多
Dehydrins(DHNs),as members of the late embryogenesis abundant protein family,play critical roles in the protection of seeds from dehydration and plant adaptation to multiple abiotic stresses.Vitrification is a basic m...Dehydrins(DHNs),as members of the late embryogenesis abundant protein family,play critical roles in the protection of seeds from dehydration and plant adaptation to multiple abiotic stresses.Vitrification is a basic method in plant cryopreservation and is characterized by forming a glassy state to prevent lethal ice crystals produced during cryogenic storage.In this study,ApSK3 type DHN was genetically transformed into embryogenic calluses(EC)of Agapanthus praecox by overexpression(OE)and RNA interference(RNAi)techniques to evaluate the in vivo protective effect of DHNs during cryopreservation.The cell viability showed a completely opposite trend in OE and RNAi cell lines,the cell relative death ratio was decreased by 20.0%in ApSK3-OE EC and significantly increased by 66.15%in ApSK3-RNAi cells after cryopreservation.Overexpression of ApSK3 increased the content of non-enzymatic antioxidants(AsA and GSH)and up-regulated the expression of CAT,SOD,POD,and GPX genes,while ApSK3-RNAi cells decreased antioxidant enzyme activities and FeSOD,POD,and APX genes expression during cryopreservation.These findings suggest that ApSK3 affects ROS metabolism through chelating metal ions(Cu^(2+)and Fe^(3+)),alleviates H_(2)O_(2)and OH·excessive generation,activates the antioxidant system,and improves cellular REDOX balance and membrane lipid peroxidation damage of plant cells during cryopreservation.DHNs can effectively improve cell stress tolerance and have great potential for in vivo or in vitro applications in plant cryopreservation.展开更多
To the Editor:Septate uterus is the most common congenital uterine malformation associated with an increased risk of miscarriage,preterm birth,and fetal malpresentation and reduced clinical pregnancy rates.The Europea...To the Editor:Septate uterus is the most common congenital uterine malformation associated with an increased risk of miscarriage,preterm birth,and fetal malpresentation and reduced clinical pregnancy rates.The European classification defines septate uterus as having an internal fundal indentation exceeding 50%of the uterine wall thickness and an external indentation less than 50%of the uterine wall thickness.展开更多
INTRODUCTION Abnormal uterine bleeding(AUB)is the most common reason adolescent females visit gynaecologists.From the onset of menarche,symptoms such as heavy menstrual bleeding(HMB)and/or prolonged menstruation can a...INTRODUCTION Abnormal uterine bleeding(AUB)is the most common reason adolescent females visit gynaecologists.From the onset of menarche,symptoms such as heavy menstrual bleeding(HMB)and/or prolonged menstruation can affct both physical and mental health,with potential lifelong impacts.Despite its preva-lence,there are relatively few studies on AUB in adolescence,and China lacks relevant guidelines and consensus on the issue.展开更多
Pelvic organ prolapse(POP),whose etiology is influenced by genetic and clinical risk factors,considerably impacts women’s quality of life.However,the genetic underpinnings in non-European populations and comprehensiv...Pelvic organ prolapse(POP),whose etiology is influenced by genetic and clinical risk factors,considerably impacts women’s quality of life.However,the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored.This study constructed the first polygenic risk score(PRS)for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study.We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls.Results showed that the case group exhibited a significantly higher PRS than the control group.Moreover,the odds ratio of the top 10%risk group was 2.6 times higher than that of the bottom 10%.A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths.As far as we know,the integrated prediction model,which combined PRS and clinical risk factors,demonstrated better predictive accuracy than other existing PRS models.This combined risk assessment model serves as a robust tool for POP risk prediction and stratification,thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.展开更多
Background:As a congenital malformation that results in infertility and an inability to have vaginal intercourse,Mayer-Rokitansky-Küster-Hauser(MRKH)syndrome places a considerable psychological burden on patients...Background:As a congenital malformation that results in infertility and an inability to have vaginal intercourse,Mayer-Rokitansky-Küster-Hauser(MRKH)syndrome places a considerable psychological burden on patients,which results in anxiety symptoms.However,only single case studies or a few small to medium-sized cross-sectional studies were identified to focus on anxiety symptoms in MRKH patients.Thus,the aim of this study was to explore the status of anxiety symptoms and the related factors in patients with MRKH syndrome.Methods:This cross-sectional study involving 141 patients with MRKH syndrome and 178 healthy women was conducted from January 2018 to December 2018.All participants were required to complete a demographic questionnaire and the Generalized Anxiety Disorder 7-item scale(GAD-7),Patient Health Questionnaire-9,Eysenck Personality Questionnaire-Revised,Short Scale for Chinese,and Chinese Version of the Female Sexual Function Index.The main outcome was the anxiety symptoms measured by the GAD-7.Main outcome was compared between the MRKH syndrome group and the healthy control group.Then,we explored the related factors by comparing patients with and without anxiety symptoms.Results:Of the respondents,24.1%experienced moderate to severe anxiety symptoms.Patients with MRKH syndrome manifested more severe anxiety symptoms than healthy women.Negative self-evaluation of femininity(odds ratio[OR]2.706,95%confidence interval[CI]1.010-7.247),neurotic personality traits(OR 1.100,95%CI 1.029-1.175),and coexisting depressive symptoms(OR 4.422,95%CI 1.498-13.049)were more prevalent in anxious patients.Conclusion:The findings stress the importance of anxiety symptom screening in MRKH patients and identify patients at risk of anxiety symptoms,providing a possible basis for future intervention.展开更多
A 33-year-old woman, gravida 1, para 0, came to the hospital with the chief complaint of severe dysmenorrhea and infertility. Her menstrual cycle was regular, bleeding moderately for 3–5 days with an interval of 30 d...A 33-year-old woman, gravida 1, para 0, came to the hospital with the chief complaint of severe dysmenorrhea and infertility. Her menstrual cycle was regular, bleeding moderately for 3–5 days with an interval of 30 days. She was diagnosed with ectopic pregnancy and received the left salpingectomy in September 2014. Intraoperative exploration showed a slightly enlarged retroverted uterus with a wide fundus and a normal right fallopian tube. As a further examination of infertility, hysterosalpingography was done in January 2016, which showed a unicornuate uterus （left） with an obstructed unilateral fallopian tube. She was referred to the Department of Obstetrics and Gynecology at Peking Union Medical College Hospital in February 2016. Her basic body temperature showed biphasic pattern. The sperm test of her husband was normal. Physical examination indicated two vaginal orifices in the vestibule, with a vertical septate lying in between. The left lateral vaginal lumen could be easily expanded and speculated, and a normal cervix was seen at its top. In contrast, the cervix was unable to be seen through the right lateral vaginal lumen, which was narrow and difficult to be exposed or inspected. Pelvic ultrasound scan showed that the uterus was 4.7 cm ×6.0 cm × 3.6 cm in size, along with the Y-shaped endometrium of 0.8 cm in thickness, and a normal echo in the muscular layer. No abnormalities were found at the bilateral adnexa areas or pelvic cavity. Besides, the bilateral renal areas and ureters were found normal in the ultrasound scan as well.展开更多
To the Editor:The septate uterus is the most common uterine anomaly and is associated with an increased risk of adverse reproductive outcomes.Transcervical resection of septum(TCRS)is widely performed in patients with...To the Editor:The septate uterus is the most common uterine anomaly and is associated with an increased risk of adverse reproductive outcomes.Transcervical resection of septum(TCRS)is widely performed in patients with adverse reproductive outcomes.The incidence of de novo intrauterine adhesions(IUAs)after TCRS is approximately 5%to 25%.[1]Various anti-adhesion methods are widely used in the clinical management of patients with septate uteri,including intrauterine devices,Foley balloons,estrogen,antibiotics,and hyaluronic acid gel.However,insufficient evidence supports or opposes any of these methods(Level C),[2]lacking high-grade evidence.展开更多
The accuracy of the simulation model has a pro-found impact on the optimal operation of the energy hubs(EHs).However,in many articles,the constant model of the efficiency of equipment is adopted to formulate the opera...The accuracy of the simulation model has a pro-found impact on the optimal operation of the energy hubs(EHs).However,in many articles,the constant model of the efficiency of equipment is adopted to formulate the operation system,which would probably lead to a simplification of the simulation models.But,EHs are typically operated under off-design condition due to the fluctuations in cooling,heating,electricity requirement.More-over,even though the off-design characteristics are considered,few studies have suggested comparing the differences between those two models by considering the operation cost.In order to assess the effect of the off-design characteristics of EH on the optimal operation accuracy in this paper,two test cases are performed on the fixed and variable load conditions,respectively.In addition,the individual effect of off-design characteristics of each equipment on the optimal operation cost of the EH is also investigated through four optimization runs.It is worth mentioning that the optimal operation problem of the EH considering the off-design characteristics and on-off status of the equipment is a mixed integer non-linear programming problem(MINLP).By testing the design and off-design models on the two cases,the results of simulation demonstrate that the optimal operation cost for the off-design model is larger than that for the design model.Nonetheless,in the aspect of the authenticity of the system operation strategy,the off-design model performs better than the design model.Furthermore,a larger relative error of the system operation cost between the two models can be observed when the EH is operated under a relatively lower load condition,revealing that the influence of off-design characteristic on the optimal operation of EHs is too significant to be neglected.展开更多
文摘BACKGROUND Thrombophilia contributes to a significant increased risk of venous thromboembolism and can be either inherited or acquired.Hereditary thrombophilia may arise from various gene mutations,some of which have not even been adequately reported or poorly understood.Previous studies reported a rare and novel missense mutation in the prothrombin gene(p.Arg596Gln),known as prothrombin Belgrade.The mechanisms and therapeutic strategies associated with prothrombin Belgrade mutation have not been fully elucidated.CASE SUMMARY We present the case of a 26-year-old woman with recurrent systemic thrombosis induced by prothrombin Belgrade mutation.The patient suffered from cerebral venous sinus thrombosis that rapidly progressed to systemic thrombosis,alongside a family history of cerebral thrombosis,and no traditional risk factors or abnormal coagulation function.Whole-genome sequencing detected a novel and rare heterozygous prothrombin missense mutation,c.1787G>T(p.Arg596Gln),which was responsible for the major etiology of the systemic thrombosis.CONCLUSION This case strengthens our understanding about hereditary basis of thrombophilia and provokes considerations for therapeutic options on prothrombin Belgrade mutation.
文摘Colorectal cancer remains the third most common malignancy worldwide. According to the principles of Traditional Chinese Medicine (TCM), colorectal cancer is related to spleen-deficiency, damp-heat, and toxicity accumulation. Traditional Chinese medicine has been confirmed to effectively reduce toxic side effects and enhance curative effects of chemotherapy, palliate clinical syndrome, prevent recurrence and metastasis, improve quality of life and immune function, and prolong survival time in colorectal cancer. However, TCM theoretical and syndrome differentiation study has lagged far behind due to progression of therapy model in colorectal cancer. As a type of drug treatment, there are some common biological basis between chemotherapy, targeted therapy and anti-cancer herb therapy in colorectal cancer, such as apoptosis, cell senescence and autophagy. There are growing needs to explore the effect mechanism and compatibility of anti-cancer herbs, to further enhance the efficacy of TCM treatment in colorectal cancer.
基金This work was supported by the National Natural Science Foundation of China[Grant Nos.31870686,31971705,and 31670693]the Natural Science Foundation of Shanghai[Grant No.21ZR1434200].
文摘Dehydrins(DHNs),as members of the late embryogenesis abundant protein family,play critical roles in the protection of seeds from dehydration and plant adaptation to multiple abiotic stresses.Vitrification is a basic method in plant cryopreservation and is characterized by forming a glassy state to prevent lethal ice crystals produced during cryogenic storage.In this study,ApSK3 type DHN was genetically transformed into embryogenic calluses(EC)of Agapanthus praecox by overexpression(OE)and RNA interference(RNAi)techniques to evaluate the in vivo protective effect of DHNs during cryopreservation.The cell viability showed a completely opposite trend in OE and RNAi cell lines,the cell relative death ratio was decreased by 20.0%in ApSK3-OE EC and significantly increased by 66.15%in ApSK3-RNAi cells after cryopreservation.Overexpression of ApSK3 increased the content of non-enzymatic antioxidants(AsA and GSH)and up-regulated the expression of CAT,SOD,POD,and GPX genes,while ApSK3-RNAi cells decreased antioxidant enzyme activities and FeSOD,POD,and APX genes expression during cryopreservation.These findings suggest that ApSK3 affects ROS metabolism through chelating metal ions(Cu^(2+)and Fe^(3+)),alleviates H_(2)O_(2)and OH·excessive generation,activates the antioxidant system,and improves cellular REDOX balance and membrane lipid peroxidation damage of plant cells during cryopreservation.DHNs can effectively improve cell stress tolerance and have great potential for in vivo or in vitro applications in plant cryopreservation.
基金supported by grants from the National Key Research and Development Program of China(No.2021YFC2701405)the National Natural Science Foundation of China(Nos.82171614 and 82271656),Beijing Natural Science Foundation(No.7232125).
文摘To the Editor:Septate uterus is the most common congenital uterine malformation associated with an increased risk of miscarriage,preterm birth,and fetal malpresentation and reduced clinical pregnancy rates.The European classification defines septate uterus as having an internal fundal indentation exceeding 50%of the uterine wall thickness and an external indentation less than 50%of the uterine wall thickness.
文摘INTRODUCTION Abnormal uterine bleeding(AUB)is the most common reason adolescent females visit gynaecologists.From the onset of menarche,symptoms such as heavy menstrual bleeding(HMB)and/or prolonged menstruation can affct both physical and mental health,with potential lifelong impacts.Despite its preva-lence,there are relatively few studies on AUB in adolescence,and China lacks relevant guidelines and consensus on the issue.
基金funded by the National Natural Science Foundation of China(Nos.82171621 to Lei Li,82271656 to Lan Zhu,82171614 to Na Chen)the National High Level Hospital Clinical Research Funding(No.2022-PUMCH-A-231 to Lei Li)+2 种基金the National Key Research and Development Program of China(Nos.2023YFC2706000,2023YFC2706001,2021YFC2701301 to Lan Zhu,2021YFC2701400 to Shan Deng)Beijing Natural Science Foundation(No.7232125 to Na Chen)CAMS Initiative Fund to Medical Sciences(No.2022-I2M-C&T-B-029 to Na Chen).
文摘Pelvic organ prolapse(POP),whose etiology is influenced by genetic and clinical risk factors,considerably impacts women’s quality of life.However,the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored.This study constructed the first polygenic risk score(PRS)for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study.We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls.Results showed that the case group exhibited a significantly higher PRS than the control group.Moreover,the odds ratio of the top 10%risk group was 2.6 times higher than that of the bottom 10%.A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths.As far as we know,the integrated prediction model,which combined PRS and clinical risk factors,demonstrated better predictive accuracy than other existing PRS models.This combined risk assessment model serves as a robust tool for POP risk prediction and stratification,thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.
文摘Background:As a congenital malformation that results in infertility and an inability to have vaginal intercourse,Mayer-Rokitansky-Küster-Hauser(MRKH)syndrome places a considerable psychological burden on patients,which results in anxiety symptoms.However,only single case studies or a few small to medium-sized cross-sectional studies were identified to focus on anxiety symptoms in MRKH patients.Thus,the aim of this study was to explore the status of anxiety symptoms and the related factors in patients with MRKH syndrome.Methods:This cross-sectional study involving 141 patients with MRKH syndrome and 178 healthy women was conducted from January 2018 to December 2018.All participants were required to complete a demographic questionnaire and the Generalized Anxiety Disorder 7-item scale(GAD-7),Patient Health Questionnaire-9,Eysenck Personality Questionnaire-Revised,Short Scale for Chinese,and Chinese Version of the Female Sexual Function Index.The main outcome was the anxiety symptoms measured by the GAD-7.Main outcome was compared between the MRKH syndrome group and the healthy control group.Then,we explored the related factors by comparing patients with and without anxiety symptoms.Results:Of the respondents,24.1%experienced moderate to severe anxiety symptoms.Patients with MRKH syndrome manifested more severe anxiety symptoms than healthy women.Negative self-evaluation of femininity(odds ratio[OR]2.706,95%confidence interval[CI]1.010-7.247),neurotic personality traits(OR 1.100,95%CI 1.029-1.175),and coexisting depressive symptoms(OR 4.422,95%CI 1.498-13.049)were more prevalent in anxious patients.Conclusion:The findings stress the importance of anxiety symptom screening in MRKH patients and identify patients at risk of anxiety symptoms,providing a possible basis for future intervention.
文摘A 33-year-old woman, gravida 1, para 0, came to the hospital with the chief complaint of severe dysmenorrhea and infertility. Her menstrual cycle was regular, bleeding moderately for 3–5 days with an interval of 30 days. She was diagnosed with ectopic pregnancy and received the left salpingectomy in September 2014. Intraoperative exploration showed a slightly enlarged retroverted uterus with a wide fundus and a normal right fallopian tube. As a further examination of infertility, hysterosalpingography was done in January 2016, which showed a unicornuate uterus （left） with an obstructed unilateral fallopian tube. She was referred to the Department of Obstetrics and Gynecology at Peking Union Medical College Hospital in February 2016. Her basic body temperature showed biphasic pattern. The sperm test of her husband was normal. Physical examination indicated two vaginal orifices in the vestibule, with a vertical septate lying in between. The left lateral vaginal lumen could be easily expanded and speculated, and a normal cervix was seen at its top. In contrast, the cervix was unable to be seen through the right lateral vaginal lumen, which was narrow and difficult to be exposed or inspected. Pelvic ultrasound scan showed that the uterus was 4.7 cm ×6.0 cm × 3.6 cm in size, along with the Y-shaped endometrium of 0.8 cm in thickness, and a normal echo in the muscular layer. No abnormalities were found at the bilateral adnexa areas or pelvic cavity. Besides, the bilateral renal areas and ureters were found normal in the ultrasound scan as well.
基金supported by a grant from the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(NO.2020-PT320-003)
文摘To the Editor:The septate uterus is the most common uterine anomaly and is associated with an increased risk of adverse reproductive outcomes.Transcervical resection of septum(TCRS)is widely performed in patients with adverse reproductive outcomes.The incidence of de novo intrauterine adhesions(IUAs)after TCRS is approximately 5%to 25%.[1]Various anti-adhesion methods are widely used in the clinical management of patients with septate uteri,including intrauterine devices,Foley balloons,estrogen,antibiotics,and hyaluronic acid gel.However,insufficient evidence supports or opposes any of these methods(Level C),[2]lacking high-grade evidence.
基金The work was supported by the State Key Program of National Natural Science Foundation of China(Grant No.51437006)the Natural Science Foundation of Guangdong Province,China(2018A030313799).
文摘The accuracy of the simulation model has a pro-found impact on the optimal operation of the energy hubs(EHs).However,in many articles,the constant model of the efficiency of equipment is adopted to formulate the operation system,which would probably lead to a simplification of the simulation models.But,EHs are typically operated under off-design condition due to the fluctuations in cooling,heating,electricity requirement.More-over,even though the off-design characteristics are considered,few studies have suggested comparing the differences between those two models by considering the operation cost.In order to assess the effect of the off-design characteristics of EH on the optimal operation accuracy in this paper,two test cases are performed on the fixed and variable load conditions,respectively.In addition,the individual effect of off-design characteristics of each equipment on the optimal operation cost of the EH is also investigated through four optimization runs.It is worth mentioning that the optimal operation problem of the EH considering the off-design characteristics and on-off status of the equipment is a mixed integer non-linear programming problem(MINLP).By testing the design and off-design models on the two cases,the results of simulation demonstrate that the optimal operation cost for the off-design model is larger than that for the design model.Nonetheless,in the aspect of the authenticity of the system operation strategy,the off-design model performs better than the design model.Furthermore,a larger relative error of the system operation cost between the two models can be observed when the EH is operated under a relatively lower load condition,revealing that the influence of off-design characteristic on the optimal operation of EHs is too significant to be neglected.
