1.Prenatal diagnosis of microcephaly due to CTNNB1 frameshift variation: a case report
Haiyu LI ; Weifang TIAN ; Yanhua DONG ; Yangyang WANG ; Handuo WANG ; Jia PENG ; Bo YANG ; Xueyin CUI ; Shihong CUI ; Ling LIU
Chinese Journal of Perinatal Medicine 2024;27(5):417-420
This article reported a case of neurodevelopmental disorder accompanied by spastic diplegia and visual impairment with the manifestation of small fetal head circumference. Prenatal ultrasonography performed at 33 +5 weeks of pregnancy revealed small fetal head circumference (-2.61SD) and oligohydramnios. Whole-exome sequencing identified a heterozygous frameshift variation of c.1623_1624insA (p.R542Tfs*30) in the CTNNB1 gene (NM_001904.4) of the fetus. No phenotypic abnormalities or corresponding gene variations were detected in the parents, suggesting it was a de novo variation. Based on the clinical manifestations, the fetus was diagnosed with a neurodevelopmental disorder accompanied by spastic diplegia and visual defects. Following genetic counseling, the pregnant woman chose to terminate the pregnancy.
2.Netrin-3 Suppresses Diabetic Neuropathic Pain by Gating the Intra-epidermal Sprouting of Sensory Axons.
Weiping PAN ; Xueyin HUANG ; Zikai YU ; Qiongqiong DING ; Liping XIA ; Jianfeng HUA ; Bokai GU ; Qisong XIONG ; Hualin YU ; Junbo WANG ; Zhenzhong XU ; Linghui ZENG ; Ge BAI ; Huaqing LIU
Neuroscience Bulletin 2023;39(5):745-758
Diabetic neuropathic pain (DNP) is the most common disabling complication of diabetes. Emerging evidence has linked the pathogenesis of DNP to the aberrant sprouting of sensory axons into the epidermal area; however, the underlying molecular events remain poorly understood. Here we found that an axon guidance molecule, Netrin-3 (Ntn-3), was expressed in the sensory neurons of mouse dorsal root ganglia (DRGs), and downregulation of Ntn-3 expression was highly correlated with the severity of DNP in a diabetic mouse model. Genetic ablation of Ntn-3 increased the intra-epidermal sprouting of sensory axons and worsened the DNP in diabetic mice. In contrast, the elevation of Ntn-3 levels in DRGs significantly inhibited the intra-epidermal axon sprouting and alleviated DNP in diabetic mice. In conclusion, our studies identified Ntn-3 as an important regulator of DNP pathogenesis by gating the aberrant sprouting of sensory axons, indicating that Ntn-3 is a potential druggable target for DNP treatment.
Mice
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Animals
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Diabetes Mellitus, Experimental/metabolism*
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Axons/physiology*
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Diabetic Neuropathies
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Sensory Receptor Cells/metabolism*
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Neuralgia/metabolism*
3.Phenytoin sodium in the treatment of tacrolimus poisoning caused by paxlovid after kidney transplantation: a report of 2 cases
Xueyin XU ; Qian FU ; Chenglin WU ; Huanxi ZHANG ; Jun LI ; Pan CHEN ; Changxi WANG
Chinese Journal of Organ Transplantation 2023;44(8):496-498
This report describs 2 domestic cases of tacrolimus poisoning in kidney transplant recipients due to overexposure of tacrolimus caused by nirmatrelvir/ritonavir for SARS-CoV-2 infection.Phenytoin sodium is prescribed for inducing CYP3A enzyme.It is intended for providing references for formulating and adjusting treatment protocols for tacrolimus overexposure and related toxicity in kidney transplant recipients caused by nirmatrelvir/ritonavir.
4.Medium-frequency electrotherapy in increasing the volume of latissimus dorsi muscle muscle in rabbits
Lu WANG ; Hui SHAO ; Shihong ZHANG ; Yikang HOU ; Jieying TANG ; Xinyu XU ; Xueyin LIAO ; Jianmin YANG ; Weiwei LI
Chinese Journal of Medical Aesthetics and Cosmetology 2023;29(6):492-496
Objective:To explore the safety and effectiveness of medium-frequency electrotherapy for increasing the volume of the latissimus dorsi muscle.Methods:Fifteen adult New Zealand white rabbits were randomly divided into three groups, namely group A, group B, and group C, with 5 rabbits in each group. This was a self-control study, with the right latissimus dorsi muscle as the experimental group and the left latissimus dorsi muscle as the control group. The three groups corresponded to three different current intensity levels: 7.062 mA for group A (6th gear), 10.593 mA for group B (9th gear), and 14.124 mA for group C (12th gear). After the 12th, 24th, and 36th sessions of the experiment, ultrasonography was used to collect the thickness of the latissimus dorsi muscle. After the 36th electrostimulation, the latissimus dorsi muscle samples were collected to measure their in vivo muscle thickness and wet weight and were then sent for HE and MASSON staining.Results:After the 12th, 24th, and 36th electrostimulation sessions, ultrasonographic sampling in groups A and B showed an increase in the thickness of the right latissimus dorsi muscle compared to the left; for example, the thickness on the right of group B increased by 37.8%. The wet weight data collected after the 36th electrostimulation in groups A and B showed an increase in the right latissimus dorsi muscle compared to the left; for example, the wet weight on the right of group B increased by 5.04%.Conclusions:Different electrostimulation modes of medium-frequency therapy technology can induce muscle fiber thickening or atrophy. In this experiment, the 9th gear (10.593 mA) of medium-frequency therapy technology may be a suitable choice for inducing muscle fiber thickening, and the 12th gear (14.124 mA) may be a suitable choice for inducing skeletal muscle thinning.
5.Progress in genetic epidemiology of gestational diabetes mellitus
Chinese Journal of Perinatal Medicine 2022;25(10):760-764
Gestational diabetes mellitus poses a substantial threat to the short- and long-term health of women and their offspring. Previous studies have identified a number of genetic risk factors for gestational diabetes through candidate gene strategy and whole genome studies. Many of these identified genetic variations have also been proved to be associated with type 2 diabetes, abnormal glycometabolism as well as insulin secretion and resistance. This article reviews the recent progress in the genetic epidemiology of gestational diabetes mellitus.
6.Anesthesiologist′s learning from experience of participating in the treatment of critically ill patients with coronavirus disease 2019 in isolation wards
Xueyin CHEN ; Gang WANG ; Kai YANG ; Jing WU ; Xiangdong CHEN
Chinese Journal of Anesthesiology 2020;40(3):296-298
After the outbreak of coronavirus disease 2019, the number of severe cases in Wuhan increased dramatically, which was far beyond the load of intensive care unit.As a result, the isolation ward became the place for the treatment of severe cases.Because the important role of anesthesiologists, more than 20 anesthesiologists from Union Hospital affiliated to Tongji Medical College of Huazhong University of Science and Technology have been sent to eight isolation wards of severe patients.They have participated in the treatment of more than 800 severe coronavirus disease 2019 patients, including more than 300 critical cases with more than 120 cases getting better recovery.Their work included endotracheal intubation, central venous catheterization, artery cannulation and blood gas analysis, and bedside cardiopulmonary ultrasound examination, and more importantly they have played an important role in respiratory management after endotracheal intubation, the treatment of cardiovascular events and precise fluid therapy.During these works, anesthesiologists improved their own professional skills through the cooperation with other specialists, including the standard writing skills of medical records and prescription, appropriate protection against infectious diseases, standard medication and oxygen therapy for respiratory diseases, and the capability of continuously management of critical cases.
7. Progress on the effect of delayed cord clamping on maternal and neonatal outcomes
Chinese Journal of Perinatal Medicine 2020;23(1):39-43
In recent years, recommendations for delayed cord clamping at birth have been made by the World Health Organization and academic organizations in several countries. A consensus is yet to be reached regarding the timing of delayed cord clamping. Previous studies indicated that delayed cord clamping could decrease the risk of anemia, intraventricular hemorrhage, necrotizing enterocolitis, and hypotension, and improve neurodevelopment for infants, with no increased risk of postpartum hemorrhage. This article reviews the effect of delayed cord clamping on maternal and neonatal outcomes worldwide over the past five years.
8.Tannic acid enhances cisplatin-induced apoptosis of hepatocellular carcinoma HepG2 cells by activating ATF6-CHOP pathway
Nana GENG ; Mingson WU ; Xiang ZHENG ; Lei YANG ; Hongyang WANG ; Xueyin LI
The Journal of Practical Medicine 2018;34(1):12-15
Objective To detect the activation levels of endoplasmic reticulum stress ATF6-CHOP pathway,and to investigate the molecular mechanism of tannic acid (TA) combined with cisplatin (CDDP) against hepatocellular carcinoma.Methods HepG2 cells were cultured with 180 μM TA or/and 0.9 μg/ml CDDP for 24 h or 48 h.The levels of ATF6 (ATF6α),ATF6B (ATF6β) and CHOP were analyzed by real-time fluorescence quantitative PCR (q-RT-PCR) and western blot.Results We found that after 24 h or 48 h,compared with the control group,ATF6 mRNA and protein levels,ATF6B protein level,CHOP mRNA and protein levels were significantly increased in the TA group,CDDP group or combination group (P < 0.01 or P < 0.05).Conclusion TA can combine with CDDP to increase the levels of endoplasmic reticulum stress ATF6-CHOP pathway,and the ATF6-CHOP pathway may be one of the molecular mechanisms synergistic anti-hepatocellular carcinoma effect of TA and CDDP on HepG2 cells.
9.The features and treatment of Xixia "May 17th" explosion accident
Shuo WANG ; Binghou YANG ; Xiang LI ; Yufei SUN ; Shuguang CAO ; Tianhua ZHU ; Minjun XU ; Xueyin LI ; Tianyu LI ; Junxiang ZHAO
Chinese Critical Care Medicine 2018;30(12):1196-1199
Objective To retrospectively analyze the injury characteristics of victims and treatment strategies in the explosion accident on the 17th May 2018 in Xixia county (Xixia "May 17th" explosion accident). Methods Based on the practice featured in pre-hospital emergency of Henan province and Nanyang city Emergency Center in the explosion accident, a retrospective analysis for the Level Three medical rescue was conducted, where a total of thirteen survived victims in Xixia "May 17" explosion accident were studied retrospectively. The data included the gender, age, burned extent and depth of the patients, burns complicated by trauma, complication of burn, respiratory function maintenance, resuscitation during shock stage, skin grafting with excision and scab. Furthermore, the data of organ function and the effect of the 90-day comprehensive treatment for the burned victims wereanalyzed. Results completion the Level Three treatment on time, which was depended on the leading role played by the regional trauma centers was the main rescuing mode of the work in Xixia county, where the primary and secondary treatments were the key parts. The three-level treatment model includes: the local hospital acts as a level-one emergency medical institution, county hospitals function as secondary emergency medical institutions, and other higher medical institutions are the tertiary first aid medical institutions. The pre-hospital and in-hospital emergency procedures were initiated immediately after the large-scale explosive burn being identified, the key to the successfully rescue was to set up a comprehensive treatment team for burns and trauma. Rescue team should involve burn department and other related departments, including the departments of emergency, general surgery, orthopedic, thoracic surgery, neurosurgery, plastic surgery, intensive care unit, blood transfusion unit, anesthesiology, and interventional radiology, etc. All the thirteen burned patients were male, with inhalation injury, blast injury, hemopneumothorax, brain injury, bone fractures, and etc. Eight of them (61.54%) had multiple organ dysfunction syndrome (MODS). MODS mainly involved respiratory, circulatory, liver, gastrointestinal tract, kidney and coagulation function. With the multi-discipline treatment, the wound of 6 severely-burned patients started healing and can be discharged after keeping the patency of airway, applying resuscitation fluid and comprehensive treatments such as debridement and dressing change. Among 7 patients with extensive deep burns, one case with skull-based fracture, open craniocerebral, extensive intracranial hemorrhage and hemopneumothorax, died 9 hours later. Another case died within 24 hours after injury due to obvious exudation on the site of early incision and relaxation of wound. The escharotomy, micro-dermis and allograft skin transplantation were carried out for five cases with extensive deep burns from the 4th day after the recovery of shock. One week later, the second stage of microsphere skin transplantation was performed. But all died of sepsis or fungal infection. Conclusions MODS and infection often occur during the course especially for patients with extensive and deep burns due to the great explosion in Xixia county, most of whom were accompanied with MODS and infection. Therefore, assembling multi-discipline team for treating the group of explosively-burned patients can increase the survival rate and reduce the possibility of disability.
10.Relationship between positive lymph nodes and distant metastasis after intensity-modulated radiotherapy in patients with nasopharyngeal carcinoma
Xueyin LIAO ; Min KANG ; Meng XU ; Rensheng WANG
Chinese Journal of Radiation Oncology 2017;26(12):1359-1364
Objective To explore the relationship between positive cervical lymph nodes and distant metastasis after intensity-modulated radiotherapy(IMRT)in patients with nasopharyngeal carcinoma(NPC). Methods A retrospective analysis was performed on the clinical data of 474 patients who were newly diagnosed with NPC but no distant metastasis and received IMRT from 2010 to 2012. The survival rates were calculated by the Kaplan-Meier method. The log-rank test was used for comparison of survival rates and univariate prognostic analysis. The multivariate analysis was made by the Cox regression model. Results In the 474 patients, 400 had positive cervical lymph nodes and 122 had residual masses in the neck after IMRT. The four-year distant metastasis, overall survival, disease-free survival, local relapse-free survival, and distant metastasis-free survival(DMFS)rates were 13.71%(65/474), 82.9%, 81.4%, 93.5%, and 86.3%, respectively. The univariate and multivariate analyses showed that treatment approach, lymph node metastases in lower neck Ⅳ/Ⅴb/Ⅴcregions, the greatest diameter of the positive cervical lymph nodes, the diameter of residual lymph nodes, and time to lymph node recession were independent prognostic factors for DMFS(all P<0.05). Conclusions Chemoradiotherapy can reduce the distant metastasis rate after IMRT for NPC. The larger the cervical lymph nodes are,the more likely there are residual masses;the larger the residual cervical lymph nodes are, the higher risk of distant metastasis there is. Large cervical lymph nodes(≥6 cm),residual masses larger than 1 cm,and residual masses at 3 months after IMRT are negative prognostic factors for DMFS after IMRT for NPC. Better intervention treatment approaches need to be explored.

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