1.A pedigree study of pontine autosomal dominant microangiopathy and leukoencephalopathy caused by COL4A1 gene mutation in 3′-untranslated region
Xiaoming QIN ; Rong LI ; Siyuan LIU ; Chenhong LI ; Shuai CHEN ; Jiewen ZHANG ; Fengyu WANG
Chinese Journal of Neurology 2025;58(10):1048-1056
Objective:To investigate the clinical and genetic characteristics of a Henan Han family with pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), aiming to enhance understanding of this disease.Methods:The proband was first admitted to the Department of Neurology, Henan Provincial People′s Hospital, Fuwai Central China Cardiovascular Hospital in December 2019 due to cerebral infarction and unilateral limb numbness and weakness. Detailed medical history collection, pedigree mapping, whole-exome sequencing screening, and Sanger sequencing validation were performed for the proband and family members. The patients′ clinical manifestations, imaging features, neuropsychological scale assessment results, and pathological changes were summarized, and genetic analysis was conducted on the gene variant site. Relevant literature was reviewed to summarize the characteristics of PADMAL.Results:The proband was a 47-year-old female, with 3 generations of family members affected, including 7 patients, 3 of whom had died. The clinical features of the patients were similar, with the first stroke occurring around the age of 40, without vascular risk factors such as hypertension or diabetes. The main clinical manifestation was unilateral limb numbness and weakness. The proband and her niece sought medical attention due to stroke symptoms. Brain magnetic resonance imaging revealed acute infarct lesions located in the pons, accompanied by multiple oval infarct foci (the "raisin bread sign") and white matter hyperintensity changes. Genetic testing showed that 4 patients carried a heterozygous c. *34GT mutation in the 3′-untranslated region (3′-UTR) of the COL4A1 gene, while the other 4 unaffected family members did not carry this variant, consistent with genotype- phenotype co-segregation in the family. Conclusions:PADMAL is an extremely rare monogenic cerebral small vessel disease caused by pathogenic variants in the 3′-UTR of the COL4A1 gene. The "raisin bread sign" in the pons is a relatively specific imaging feature that distinguishes it from other cerebral small vessel diseases. For patients with this sign, genetic testing for PADMAL should be considered.
2.Nerve growth factor concentration in follicular fluid associated with abnormal menstrual cycle in patients with PCOS
Yanru LOU ; Tian TIAN ; Jianfei GONG ; Jian HAN ; Mengyuan TIAN ; Xiaoqing HE ; Xiaolin XU ; Jinze YANG ; Chenhong LIU ; Jialin LI ; Ping LIU ; Rong LI ; Rui YANG ; Jie YAN ; Jie QIAO
Chinese Journal of Reproduction and Contraception 2025;45(11):1106-1112
Objective:To investigate the relationship between nerve growth factor (NGF) concentration in follicular fluid and abnormal menstrual cycle in infertile patients with polycystic ovary syndrome (PCOS).Methods:A retrospective cohort study was conducted on 100 infertile patients with PCOS who underwent in vitro fertilization and embryo transfer (IVF-ET) at Department of Obstetrics and Gynecology, Peking University Third Hospital from March 2017 to June 2019. For comparison, the 100 patients with PCOS were divided into low NGF group ( n=50) and high NGF group ( n=50) based on the median NGF concentration (1 644.03 ng/L) in follicular fluid. Baseline characteristics, menstrual status and clinical outcomes of assisted reproductive technology were compared. We performed multiple linear regression analysis to examine the effect of NGF in follicular fluid on menstrual cycle length for multivariate analysis. Results:1) PCOS patients in the low NGF group had significantly higher body mass index [(27.24±5.17) kg/m 2] and white blood cell count [7.31(5.99, 8.43)×10 9/L ] than those in the high NGF group [(25.03±4.46) kg/m 2, P=0.024; 5.95(5.08,7.01)×10 9/L, P=0.001], while high-density lipoprotein cholesterol [1.15 (0.98, 1.36) mmol/L] and basic follicle-stimulating hormone level [6.51 (5.10,7.95) U/L] in the low NGF group were significantly lower than those in the high NGF group [1.36 (1.09,1.52) mmol/L, P=0.039;6.51 (5.10,7.95)U/L, P=0.040]. 2) PCOS patients in the low NGF group had significantly higher menstrual cycle length [60.00 (35.00, 180.00) d] than the high NGF group [32.50 (27.00,67.50) d, P=0.001]. 3) Multiple linear regression analysis revealed that after adjustment for body mass index, age, infertility duration, infertility type, and glucose and lipid metabolic parameters, the NGF concentration in the follicular fluid independently and negatively correlated with menstrual cycle length ( P<0.05). 4) The NGF concentration in follicular fluid was not correlated with assisted reproductive outcomes. Conclusion:NGF concentration in follicular fluid is closely related to the degree of menstrual cycle abnormalities in patients with PCOS.
3.Nerve growth factor concentration in follicular fluid associated with abnormal menstrual cycle in patients with PCOS
Yanru LOU ; Tian TIAN ; Jianfei GONG ; Jian HAN ; Mengyuan TIAN ; Xiaoqing HE ; Xiaolin XU ; Jinze YANG ; Chenhong LIU ; Jialin LI ; Ping LIU ; Rong LI ; Rui YANG ; Jie YAN ; Jie QIAO
Chinese Journal of Reproduction and Contraception 2025;45(11):1106-1112
Objective:To investigate the relationship between nerve growth factor (NGF) concentration in follicular fluid and abnormal menstrual cycle in infertile patients with polycystic ovary syndrome (PCOS).Methods:A retrospective cohort study was conducted on 100 infertile patients with PCOS who underwent in vitro fertilization and embryo transfer (IVF-ET) at Department of Obstetrics and Gynecology, Peking University Third Hospital from March 2017 to June 2019. For comparison, the 100 patients with PCOS were divided into low NGF group ( n=50) and high NGF group ( n=50) based on the median NGF concentration (1 644.03 ng/L) in follicular fluid. Baseline characteristics, menstrual status and clinical outcomes of assisted reproductive technology were compared. We performed multiple linear regression analysis to examine the effect of NGF in follicular fluid on menstrual cycle length for multivariate analysis. Results:1) PCOS patients in the low NGF group had significantly higher body mass index [(27.24±5.17) kg/m 2] and white blood cell count [7.31(5.99, 8.43)×10 9/L ] than those in the high NGF group [(25.03±4.46) kg/m 2, P=0.024; 5.95(5.08,7.01)×10 9/L, P=0.001], while high-density lipoprotein cholesterol [1.15 (0.98, 1.36) mmol/L] and basic follicle-stimulating hormone level [6.51 (5.10,7.95) U/L] in the low NGF group were significantly lower than those in the high NGF group [1.36 (1.09,1.52) mmol/L, P=0.039;6.51 (5.10,7.95)U/L, P=0.040]. 2) PCOS patients in the low NGF group had significantly higher menstrual cycle length [60.00 (35.00, 180.00) d] than the high NGF group [32.50 (27.00,67.50) d, P=0.001]. 3) Multiple linear regression analysis revealed that after adjustment for body mass index, age, infertility duration, infertility type, and glucose and lipid metabolic parameters, the NGF concentration in the follicular fluid independently and negatively correlated with menstrual cycle length ( P<0.05). 4) The NGF concentration in follicular fluid was not correlated with assisted reproductive outcomes. Conclusion:NGF concentration in follicular fluid is closely related to the degree of menstrual cycle abnormalities in patients with PCOS.
4.Summary of the best evidence on output and input record in patients with heart failure
Lin YAN ; Chen ZHANG ; Zhouzhou LIU ; Baihan LUO ; Ru LI ; Linyan ZHANG ; Chenhong AN ; Xiangyu ZHANG ; Chunying HUO
Chinese Journal of Modern Nursing 2025;31(12):1582-1589
Objective:To retrieve, evaluate, and integrate evidence on output and input record in patients with heart failure.Methods:Literature related to output and input record for patients with heart failure was systematically searched in national and international guideline networks, professional association websites, and databases. The search period was from database establishment to October 31, 2024. Evidence was extracted, integrated, and graded after two researchers independently conducted a literature quality assessment.Results:A total of 15 papers were included, including six guidelines, two expert consensus, two evidence summaries, one recommended practice, two systematic reviews, and two expert opinions. Twenty-five pieces of best evidence were summarized in five areas of objects and content, fluid measurement, recording and aggregation, evaluation and monitoring, and training and guidance.Conclusions:This study summarizes the best evidence for output and input record in patients with heart failure, which may inform nursing staff in their clinical practice. Nursing staff should judiciously select and apply evidence in a clinical context so as to improve the accuracy of output and input record.
5.Summary of the best evidence on output and input record in patients with heart failure
Lin YAN ; Chen ZHANG ; Zhouzhou LIU ; Baihan LUO ; Ru LI ; Linyan ZHANG ; Chenhong AN ; Xiangyu ZHANG ; Chunying HUO
Chinese Journal of Modern Nursing 2025;31(12):1582-1589
Objective:To retrieve, evaluate, and integrate evidence on output and input record in patients with heart failure.Methods:Literature related to output and input record for patients with heart failure was systematically searched in national and international guideline networks, professional association websites, and databases. The search period was from database establishment to October 31, 2024. Evidence was extracted, integrated, and graded after two researchers independently conducted a literature quality assessment.Results:A total of 15 papers were included, including six guidelines, two expert consensus, two evidence summaries, one recommended practice, two systematic reviews, and two expert opinions. Twenty-five pieces of best evidence were summarized in five areas of objects and content, fluid measurement, recording and aggregation, evaluation and monitoring, and training and guidance.Conclusions:This study summarizes the best evidence for output and input record in patients with heart failure, which may inform nursing staff in their clinical practice. Nursing staff should judiciously select and apply evidence in a clinical context so as to improve the accuracy of output and input record.
6.A pedigree study of pontine autosomal dominant microangiopathy and leukoencephalopathy caused by COL4A1 gene mutation in 3′-untranslated region
Xiaoming QIN ; Rong LI ; Siyuan LIU ; Chenhong LI ; Shuai CHEN ; Jiewen ZHANG ; Fengyu WANG
Chinese Journal of Neurology 2025;58(10):1048-1056
Objective:To investigate the clinical and genetic characteristics of a Henan Han family with pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL), aiming to enhance understanding of this disease.Methods:The proband was first admitted to the Department of Neurology, Henan Provincial People′s Hospital, Fuwai Central China Cardiovascular Hospital in December 2019 due to cerebral infarction and unilateral limb numbness and weakness. Detailed medical history collection, pedigree mapping, whole-exome sequencing screening, and Sanger sequencing validation were performed for the proband and family members. The patients′ clinical manifestations, imaging features, neuropsychological scale assessment results, and pathological changes were summarized, and genetic analysis was conducted on the gene variant site. Relevant literature was reviewed to summarize the characteristics of PADMAL.Results:The proband was a 47-year-old female, with 3 generations of family members affected, including 7 patients, 3 of whom had died. The clinical features of the patients were similar, with the first stroke occurring around the age of 40, without vascular risk factors such as hypertension or diabetes. The main clinical manifestation was unilateral limb numbness and weakness. The proband and her niece sought medical attention due to stroke symptoms. Brain magnetic resonance imaging revealed acute infarct lesions located in the pons, accompanied by multiple oval infarct foci (the "raisin bread sign") and white matter hyperintensity changes. Genetic testing showed that 4 patients carried a heterozygous c. *34GT mutation in the 3′-untranslated region (3′-UTR) of the COL4A1 gene, while the other 4 unaffected family members did not carry this variant, consistent with genotype- phenotype co-segregation in the family. Conclusions:PADMAL is an extremely rare monogenic cerebral small vessel disease caused by pathogenic variants in the 3′-UTR of the COL4A1 gene. The "raisin bread sign" in the pons is a relatively specific imaging feature that distinguishes it from other cerebral small vessel diseases. For patients with this sign, genetic testing for PADMAL should be considered.
7.Epidemiology of urticaria in China: a population-based study
Jiaqing LI ; Dandan MAO ; Shuoshuo LIU ; Ping LIU ; Jing TIAN ; Chenhong XUE ; Xiaojing LIU ; Ruiqun QI ; Bingxue BAI ; Jianjun NIE ; Siqi YE ; Yu WANG ; Yuye LI ; Qing SUN ; Juan TAO ; Shuping GUO ; Hong FANG ; Jianqin WANG ; Qiri MU ; Quanzhong LIU ; Yan DING ; Jianzhong ZHANG
Chinese Medical Journal 2022;135(11):1369-1375
Background::Urticaria is a common skin disease characterized by episodes of wheals, and it has a negative effect on patients’ quality of life. Large-scale population-based epidemiological studies of urticaria are scarce in China. The aim of this survey was to determine the prevalence, clinical forms, and risk factors of urticaria in the Chinese population.Methods::This survey was conducted in 35 cities from 31 provinces, autonomous regions, and municipalities of China. Two to three communities in each city were selected in this investigation. Participants completed questionnaires and received dermatological examinations. We analyzed the prevalence, clinical forms, and risk factors of urticaria.Results::In total, 44,875 questionnaires were distributed and 41,041 valid questionnaires were collected (17,563 male and 23,478 female participants). The lifetime prevalence of urticaria was 7.30%, with 8.26% in female and 6.34% in male individuals ( P < 0.05). The point prevalence of urticaria was 0.75%, with 0.79% in female and 0.71% in male individuals ( P < 0.05). Concomitant angioedema was found in 6.16% of patients. Adults had a higher prevalence of urticaria than adolescents and children. Living in urban areas, exposure to pollutants, an anxious or depressed psychological status, a personal and family history of allergy, thyroid diseases, and Helicobacter pylori infection were associated with a higher prevalence of urticaria. Smoking was correlated with a reduced risk of urticaria. Conclusion::This study demonstrated that the lifetime prevalence of urticaria was 7.30% and the point prevalence was 0.75% in the Chinese population; women had a higher prevalence of urticaria than men. Various factors were correlated with urticaria.
8.Correlation between in vitro fertilization-embryo transfer and preeclampsia
Journal of Chinese Physician 2021;23(9):1294-1298
Objective:The correlation between in vitro fertilization-embryo transfer (IVF-ET) pregnancy and preeclampsia was studied by the propensity score matching. Methods:4 823 pregnant women with delivery gestational weeks >24 weeks were selected, including 481 in IVF group and 4 342 in natural pregnancy group. The propensity score model was established by using 16 maternal covariates, and the propensity score matching samples (924 cases) were obtained to evaluate the correlation between IVF-ET and preeclampsia.Results:⑴ Before matching, the incidence of preeclampsia in the IVF group was higher than that in the natural pregnancy group (9.8% vs 3.3%, P<0.05). Multivariate regression analysis showed that IVF-ET was a risk factor for preeclampsia (a OR=1.887; 95% CI: 1.23-2.89, P=0.003); After matching propensity score, OR was 2.067 (95% CI: 1.24-3.44, P=0.005), confirming that there was a significant association between IVF-ET and preeclampsia. ⑵ Before matching, the incidence of preeclampsia in IVF group was significantly higher than that in natural pregnancy group in singleton pregnancy (9.0% vs 3.1%, a OR=2.530, 95% CI: 1.63-3.94, P>0.05); In twin pregnancy, there was no significant difference in the incidence of preeclampsia between the two groups (12.7% vs 7.5%, a OR=1.004, 95% CI: 0.35-2.87, P=0.994); The result of propensity score matching is consistent with that before matching. Conclusions:Propensity score matching analysis showed that the risk of preeclampsia increased after IVF-ET pregnancy, IVF-ET was an important risk factor for preeclampsia in singleton pregnancy, and IVF-ET did not increase the risk of preeclampsia in twin pregnancy. It is suggested that the correlation between IVF and preeclampsia may be disturbed by twin pregnancy.
9.Management, future prevention and control of high-risk pregnancy
Ying LIU ; Wenli GOU ; Chunfang LI ; Chenhong WANG
Journal of Chinese Physician 2020;22(7):981-985
Since the two-child policy has been fully liberalized, the number of elderly women has increased, and the widespread application of assisted reproductive technology has increased the proportion of high-risk pregnancy year by year, which adds new challenges to obstetric work. High-risk pregnancy not only increases the risk of pregnancy complications, but also threatens the health of mother and child. Prenatal screening and pregnancy care for high-risk pregnant women are essential to ensure their safety through pregnancy and delivery. In recent years, with the continuous improvement of prenatal screening and hierarchical medical system, high-risk pregnant women have received more intensive monitoring and active intervention. At the same time, the promotion of Internet + hospitals has also achieved initial results in the field of obstetrics, which has increased the convenience of perinatal health care services. However, there are still differences in maternal health status between urban and rural areas and among different regions, and the supply capacity of maternal and child health services needs to be improved. In terms of reducing maternal and perinatal mortality, obstetric workers and maternal women still need to work together to improve the management of high-risk pregnancies, prevent adverse pregnancy outcomes, and ensure the safety of mothers and infants.
10.Attach importance to the immunological mechanism of preeclampsia
Ying LIU ; Chubing HUANG ; Chenhong WANG
Journal of Chinese Physician 2019;21(7):961-965
Preeclampsia is one of the main causes of high morbidity and mortality of pregnant women and perinatal infants worldwide. Affected by many factors, preeclampsia has a complex pathogen-esis and can cause involvement of multiple organs and systems. Its pathogenesis is still unclear. Current research suggests that maternal immune system indirectly involved in the pathophysiology of preeclampsia change, that is, abnormal activation of innate immune cells and unbalanced differentiation of T helper cell subsets interfere with normal immune regulation, and interact with inflammatory response of the body, which produces cytotoxic environment at the maternal-fetal interface and affects trophoblast inva-sion. Therefore, clarifying the role of the immune system can not only clarify the pathogenesis of pre-eclampsia, but also contribute to the development of diagnosis and treatment of preeclampsia. This paper reviews the research status of immune system in preeclampsia, including innate immunity and adaptive immunity . The immune mechanism of preeclampsia is elaborated mainly from immune regulation mediated by T lymphocyte, natural killer ( NK) cell, macrophage and human leukocyte antigen.

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