1.A case report of neonatal pseudoaldosteronism caused by NR3C2 gene mutation
Junhe LI ; Rui ZHANG ; Qingxu LIU ; Sumin SUI
Journal of Shanghai Jiaotong University(Medical Science) 2025;45(7):934-938
Pseudohypoaldosteronism type Ⅰ(PHA Ⅰ)is a rare inherited disease,mainly caused by the deficiency of the aldosterone receptor or by reduced or absent binding between aldosterone and its receptor.It typically manifests as neonatal hyponatremia,hyperkalaemia,metabolic acidosis,accompanied by dehydration,vomiting,weight loss,and even shock.PHA Ⅰ is classified into renal-type with mutations in the salt corticosteroid receptor and multi-organ with mutations in any of the three subunits of the epithelial sodium channel(α,β or γ).The renal-type,which is inherited in an autosomal dominant manner,is caused by mutations in the aldosterone receptor with an isolated nephrogenic salt-loss syndrome,and the clinical symptoms are milder compared with those of the multi-organ type,which may improve with age.However,severity varies among individuals depending on the degree of salt loss,and if not treated in time,it may lead to shock due to repeated dehydration or even cardiac arrest due to high potassium.Currently,domestic studies have found that the human salt corticosteroid receptor is encoded by the NR3C2 gene,which is located between the regions of 4q31.1 and 4q31.2.This case reports a child with nephrogenic PHA Ⅰ due to a new-onset variant of the NR3C2(4q31.22)gene,who had chromosomal anomalies in the fetus and demonstrated high blood pressure,high blood potassium and low sodium after birth.The diagnosis of renal neonatal PHA Ⅰ was confirmed by the presence of a microdeletion of NR3C2 gene(4q31.22 region)in the child,which was demonstrated by a genome-wide chromosomal assay and accompanied by a significant elevation of the plasma aldosterone level(>2 000 pg/mL),and by the presence of a microdeletion of NR3C2 gene(4q31.22 region)in the child.Electrolyte disorders were corrected after oral administration of concentrated sodium chloride,and the condition remained stable at the 1-month follow-up.
2.The expression of N-acetyltransferase 10,serine hydroxymethyltransferase 2,YTH domain family protein 1 in lung cancer tissues and their correlation with clinicopathological characteristics and prognosis
Zhigang HUANG ; Xingwei ZHANG ; Yu ZHANG ; Qingxu ZOU
Journal of Clinical Surgery 2025;33(8):827-831
Objective To investigate the expression of N-acetyltransferase 10(NAT10),serine hydroxymethyltransferase 2(SHMT2)and YTH domain family protein 1(YTHDF1)in lung cancer tissues and their correlation with clinicopathological characteristics and prognosis.Methods A total of 98 lung cancer patients admitted to our hospital from April 2020 to April 2021 were regarded as the observation subjects.The cancerous tissues and adjacent tissues of the patient during surgery were collected.Immunohistochemistry was used to detect the expression levels of NAT10,SHMT2 and YTHDF1.The patients were followed up for 3 years and divided into the survival group and the death group according to their prognosis.The data of general clinicopathological characteristics were collected and analyzed.The relationship between NAT10,SHMT2 and YTHDF1 with the prognosis of patients were analyzed.Multivariate Cox regression was used to analyze the influencing factors of lung cancer patients.Results The high expression ratios of NAT10,SHMT2 and YTHDF1 in cancer tissues were obviously higher than those in adjacent tissues(P<0.05).The expression of NAT10 and YTHDF1 was related to clinical stage,degree of differentiation and lymph node metastasis(P<0.05),and the expression of SHMT2 was correlated with clinical stage,degree of differentiation,tumor diameter,and lymph node metastasis(P<0.05).There were statistically significant differences in tumor diameter,clinical stage,degree of differentiation,lymph node metastasis,and expressions of NAT10,SHMT2,and YTHDF1 between the survival group and the death group(P<0.05).NAT10,SHMT2,YTHDF1 patient survival rates significantly below the low of high expression patients(x2=6.354,P=0.012,x2=8.512,P=0.004,x2=4.791,P=0.029).Lymph node metastasis,high expression of NAT10,SHMT2 and YTHDF1 are all risk factors affecting the prognosis of patients(P<0.05).Conclusion NAT10,SHMT2,and YTHDF1 are all highly expressed in the tissues of lung cancer,and have a certain correlation with clinical pathological characteristics and prognosis.They may serve as relevant evaluation indicators for the prognosis of lung cancer patients.
3.A case report of neonatal pseudoaldosteronism caused by NR3C2 gene mutation
Junhe LI ; Rui ZHANG ; Qingxu LIU ; Sumin SUI
Journal of Shanghai Jiaotong University(Medical Science) 2025;45(7):934-938
Pseudohypoaldosteronism type Ⅰ(PHA Ⅰ)is a rare inherited disease,mainly caused by the deficiency of the aldosterone receptor or by reduced or absent binding between aldosterone and its receptor.It typically manifests as neonatal hyponatremia,hyperkalaemia,metabolic acidosis,accompanied by dehydration,vomiting,weight loss,and even shock.PHA Ⅰ is classified into renal-type with mutations in the salt corticosteroid receptor and multi-organ with mutations in any of the three subunits of the epithelial sodium channel(α,β or γ).The renal-type,which is inherited in an autosomal dominant manner,is caused by mutations in the aldosterone receptor with an isolated nephrogenic salt-loss syndrome,and the clinical symptoms are milder compared with those of the multi-organ type,which may improve with age.However,severity varies among individuals depending on the degree of salt loss,and if not treated in time,it may lead to shock due to repeated dehydration or even cardiac arrest due to high potassium.Currently,domestic studies have found that the human salt corticosteroid receptor is encoded by the NR3C2 gene,which is located between the regions of 4q31.1 and 4q31.2.This case reports a child with nephrogenic PHA Ⅰ due to a new-onset variant of the NR3C2(4q31.22)gene,who had chromosomal anomalies in the fetus and demonstrated high blood pressure,high blood potassium and low sodium after birth.The diagnosis of renal neonatal PHA Ⅰ was confirmed by the presence of a microdeletion of NR3C2 gene(4q31.22 region)in the child,which was demonstrated by a genome-wide chromosomal assay and accompanied by a significant elevation of the plasma aldosterone level(>2 000 pg/mL),and by the presence of a microdeletion of NR3C2 gene(4q31.22 region)in the child.Electrolyte disorders were corrected after oral administration of concentrated sodium chloride,and the condition remained stable at the 1-month follow-up.
4.The expression of N-acetyltransferase 10,serine hydroxymethyltransferase 2,YTH domain family protein 1 in lung cancer tissues and their correlation with clinicopathological characteristics and prognosis
Zhigang HUANG ; Xingwei ZHANG ; Yu ZHANG ; Qingxu ZOU
Journal of Clinical Surgery 2025;33(8):827-831
Objective To investigate the expression of N-acetyltransferase 10(NAT10),serine hydroxymethyltransferase 2(SHMT2)and YTH domain family protein 1(YTHDF1)in lung cancer tissues and their correlation with clinicopathological characteristics and prognosis.Methods A total of 98 lung cancer patients admitted to our hospital from April 2020 to April 2021 were regarded as the observation subjects.The cancerous tissues and adjacent tissues of the patient during surgery were collected.Immunohistochemistry was used to detect the expression levels of NAT10,SHMT2 and YTHDF1.The patients were followed up for 3 years and divided into the survival group and the death group according to their prognosis.The data of general clinicopathological characteristics were collected and analyzed.The relationship between NAT10,SHMT2 and YTHDF1 with the prognosis of patients were analyzed.Multivariate Cox regression was used to analyze the influencing factors of lung cancer patients.Results The high expression ratios of NAT10,SHMT2 and YTHDF1 in cancer tissues were obviously higher than those in adjacent tissues(P<0.05).The expression of NAT10 and YTHDF1 was related to clinical stage,degree of differentiation and lymph node metastasis(P<0.05),and the expression of SHMT2 was correlated with clinical stage,degree of differentiation,tumor diameter,and lymph node metastasis(P<0.05).There were statistically significant differences in tumor diameter,clinical stage,degree of differentiation,lymph node metastasis,and expressions of NAT10,SHMT2,and YTHDF1 between the survival group and the death group(P<0.05).NAT10,SHMT2,YTHDF1 patient survival rates significantly below the low of high expression patients(x2=6.354,P=0.012,x2=8.512,P=0.004,x2=4.791,P=0.029).Lymph node metastasis,high expression of NAT10,SHMT2 and YTHDF1 are all risk factors affecting the prognosis of patients(P<0.05).Conclusion NAT10,SHMT2,and YTHDF1 are all highly expressed in the tissues of lung cancer,and have a certain correlation with clinical pathological characteristics and prognosis.They may serve as relevant evaluation indicators for the prognosis of lung cancer patients.
5.Influence of nonylphenol on cytoactive and the expression of G protein-coupled estrogen receptor in human colon cancer SW480 cells
Qingxu YANG ; Xiu LIU ; Tao ZHANG ; Weiwei NING ; Jie ZHANG ; Ming XIE
Chinese Journal of Digestive Surgery 2022;21(6):802-808
Objective:To investigate the influence of nonylphenol (NP) on cytoactive and the expression of G protein-coupled estrogen receptor 30 (GPR30) in human colon cancer SW480 cells.Methods:The experimental study was conducted. The human colon cancer SW480 cells were cultured in vitro. The influence of NP on proliferation, cell cycle, apoptosis and the expression of GPR30 in human colon cancer SW480 cells were analyzed by cell proliferation, cell cycle detection, cell apoptosis and gene expression and protein expression experiments. Cell grouping: SW480 cells cultured with medium were set as the control group, cultured with medium+1×10 ?8 mol/L estradiol were set as the estradiol group, cultured with medium+1×10 ?8 mol/L NP were set as the NP group, cultured with medium+1×10 ?8 mol/L NP+1×10 ?7 mol/L GPR30 specific antagonist G15 were set as the NP+G15 group, respectively. Observation indicators: (1) proliferation index of human colon cancer SW480 cells in the 4 groups; (2) cycle proportion of human colon cancer SW480 cells in the 4 groups; (3) apoptosis index of human colon cancer SW480 cells in the 4 groups; (4) GPR30 messenger RNA(mRNA) expression of human colon cancer SW480 cells in the 4 groups; (5) GPR30 protein expression of human colon cancer SW480 cells in the 4 groups. Measurement data with normal distribution were represented as Mean± SD and one way ANOVA was used for comparison between groups. The least significant difference method was used to test the pairwise comparison. Results:(1) Proliferation index of human colon cancer SW480 cells in the 4 groups. Results of the cell proliferation experiments showed that the proliferation indexes of human colon cancer SW480 cells in the control group, the estradiol group, the NP group and the NP+G15 group were 100.00±0.00, 89.19±4.86, 148.96±6.04 and 120.40±3.39, respectively, showing a significant difference among the 4 groups ( F=21.45, P<0.05). There was a significant difference between the control group and the NP group ( P<0.05), and there was no significant difference between the control group and the estradiol group, between the control group and the NP+G15 group ( P>0.05). (2) Cycle proportion of human colon cancer SW480 cells in the 4 groups. Results of the cell cycle detection experiments showed that the proportions of human colon cancer SW480 cells in the S phase of the cell cycles in the control group, the estradiol group, the NP group and the NP+G15 group were 39.96%±2.02%, 36.67%±0.62%, 43.85%±1.02% and 38.29%±1.42%, respectively, showing a significant difference among the 4 groups ( F=10.08, P<0.05). There were significant differences between the control group and the estradiol group, between the control group and the NP group ( P<0.05), and there was no significant difference between the control group and the NP+G15 group ( P>0.05). (3) Apoptosis index of human colon cancer SW480 cells in the 4 groups. Results of the cell apoptosis experiments showed that the apoptosis indexes of human colon cancer SW480 cells in the control group, the estradiol group, the NP group and the NP+G15 group were 1.67±0.18, 4.80±0.31, 0.75±0.11 and 2.20±0.19, respectively, showing a significant difference among the 4 groups ( F=136.79, P<0.05). There were significant differences between the control group and the estradiol group, between the control group and the NP group ( P<0.05), and there was no significant difference between the control group and the NP+G15 group ( P>0.05). (4) GPR30 mRNA expression of human colon cancer SW480 cells in the 4 groups. Results of quantitative real-time polymerase chain reaction detection showed that the relative expression rates of GPR30 mRNA in human colon cancer SW480 cells of the control group, the estradiol group, the NP group and the NP+G15 group were 1.00±0.00, 0.86±0.05, 1.89±0.27 and 0.64±0.12, respectively, showing a significant difference among the 4 groups ( F=26.61, P<0.05). There were significant differences between the control group and the NP group, between the control group and the NP+G15 group ( P<0.05), and there was no significant difference between the control group and the estradiol group ( P>0.05). (5) GPR30 protein expression human colon cancer SW480 cells in the 4 groups. Results of Western blot detection showed that the relative expression rates of GPR30 protein in human colon cancer SW480 cells of the control group, the estradiol group, the NP group and the NP+G15 group were 1.83±0.16, 1.68±0.15, 3.10±0.30 and 1.26±0.11, respectively, showing a significant difference among the 4 groups ( F=34.05, P<0.05). There were significant differences between the control group and the NP group, between the control group and the NP+G15 group ( P<0.05), and there was no significant difference between the control group and the estradiol group ( P>0.05). Conclusion:Low dose of NP can increase the proliferation index and the proportion of cells in the S phase of the cell cycles, decrease the apoptosis index, and promote the mRNA and protein expression of GPR30 in human colon cancer SW480 cells.
6.Adrenal Castleman disease: a case report
Qingxu ZHANG ; Zhiguo SONG ; Wei WANG ; Xiaopeng JIA ; Shijie YANG ; Jianguo MA
Chinese Journal of Urology 2021;42(10):780-781
Adrenal Castleman's disease is rare. One case of left adrenal Castleman's disease, who underwent retroperitoneal laparoscopic left adrenal gland and tumor resection. The postoperative pathological diagnosis was adrenal Castleman's disease (transparent vascular type), and no tumor recurrence was found after 2 years of follow-up.
7.Clinicopathological analysis of clear cell meningioma.
Tongtong WU ; Qingxu YANG ; Zhi LI ; Fang CAI ; Shuling ZHU ; Faren ZHANG
Journal of Southern Medical University 2012;32(1):131-134
We present two cases of clear cell meningioma (CCM) in the intracranial and intraspinal region with anaplastic features. On histological examination, both the tumors exhibited unusual anaplastic appearances with nuclear pleomorphism, a high mitotic activity and necrosis, which were different from classical CCMs. The tumor cells were immunoreactive to epithelial membrane antigen (EMA) and vimentin with a high MIB-1 index of 40%. Total excision of the tumors was performed in both cases. The male patient was found to have local recurrence and lateral ventricle metastasis 3 months after the total excision. We reviewed the clinicopathological features, disagnosis and prognosis of the disease. We recommend that postoperative adjuvant radiotherapy or chemotherapy be performed after total tumor excision, and MRI scan every 3-6 months is mandatory during the initial follow-up period.
Adult
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Aged
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Female
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Follow-Up Studies
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Humans
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Male
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Meningeal Neoplasms
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immunology
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pathology
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therapy
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Meningioma
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immunology
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pathology
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therapy
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Mucin-1
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immunology
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Vimentin
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immunology
8.Intravenous leiomyomatosis of the inferior vena cava
Jian YU ; Lian YUAN ; Qingxu GUO ; Jun ZHANG ; Youdong CHEN ; Liguo YANG ; Xiaoming ZHANG
Chinese Journal of General Surgery 2008;23(4):269-271
Objective To summarize the experience on the diagnosis and therapy of intravenous leiomyomatosis(IVL)of the inferior vena cava.Methods Eight IVL patients were treated in our hospital from March 1998 to April 2007. Results The diagnosis of IVL of the inferior vena cava was established histologically by biopsy during inferior vena eavagram before operation in 4 patients.Seven patients received open surgery.Except one patient dying of massive hemorrhage during operation and one IVL recurrence during follow-up,postoperative course was uneventful and an average follow-up of 29 months found no recurrence in the other five patients. Conclusion The final diagnosis of IVL of the inferior vena cava depends on venogram and biopsy,and it is an estrogen dependent tumor originating from uterus leiomyoma.Total surgical extirpation of the tumor is the only effective treatment for IVL.
9.Effect of subtotal splenectomy with retroperitoneal splenic transposition and devascularization on portal hypertensive gastropathy
Enshan LI ; Liande ZHAO ; Lidong ZHU ; Qingxu SUN ; Zhengping LI ; Yuankai ZHANG
Chinese Journal of General Surgery 2001;0(08):-
Objective To study the effect of the modality of subtotal splenectomy with retroperitoneal splenic transposition combined with devascularization on portal hypertensive gastropahy(PHG). Methods Subtotal splenectomy with retroperitoneal splenic transposition combined with devascularization was performed in 48 cirrhotic patients with portal hypertension. Forty seven patients were followed up for 2 years to 13 years (average 91 months). PHG were observed by gastroscopy.Results At 2 months postoperation ,PHG was significantly aggravated compared with that of preoperation (P
10.Whole pelvis verscera joint excision in treating four cases of locally advanced cervical carcinoma
Jiahua ZHUANG ; Ling WANG ; Qingxu SUN ; Jimei DING ; Chunna LIU ; Haiyan ZHANG
Cancer Research and Clinic 1997;0(03):-
Objective To probe into the clinical value of the whole pelvis internal organs joint excision in locally advanced cervical carcinoma. Methods Four cases of local cervical carcinoma patients who have been implemented the peculiar operation from April 1997 to April 2001 were analyzed. Results The operation progressed well and the time of surviving was 4-41 months, 16.3 months in life cycle on average. 4 patients died of intestinal obstruction, vagina-small intestine atrophy and the pain of pelvis which resulted in a hunger strike and lung metastasis. Conclusion Implement the operation to those patients whose rectum and bladder were invaded simultaneously can lengthen a patient's life cycle and improve the quality of surviving. To grasp the operation target, standardize the step and improve the treatment method before and after operation were necessary.

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