1.Analysis of surgical situations and prognosis of pancreaticoduodenectomy in Jiangsu province (a report of 2 886 cases)
Zipeng LU ; Xin GAO ; Hao CHENG ; Ning WANG ; Kai ZHANG ; Jie YIN ; Lingdi YIN ; Youting LIN ; Xinrui ZHU ; Dongzhi WANG ; Hongqin MA ; Tongtai LIU ; Yongzi XU ; Daojun ZHU ; Yabin YU ; Yang YANG ; Fei LIU ; Chao PAN ; Jincao TANG ; Minjie HU ; Zhiyuan HUA ; Fuming XUAN ; Leizhou XIA ; Dong QIAN ; Yong WANG ; Susu WANG ; Wentao GAO ; Yudong QIU ; Dongming ZHU ; Yi MIAO ; Kuirong JIANG
Chinese Journal of Digestive Surgery 2024;23(5):685-693
Objective:To investigate the surgical situations and perioperative outcome of pancreaticoduodenectomy in Jiangsu Province and the influencing factors for postoperative 90-day mortality.Methods:The retrospective case-control study was conducted. The clinicopathological data of 2 886 patients who underwent pancreaticoduodenectomy in 21 large tertiary hospitals of Jiangsu Quality Control Center for Pancreatic Diseases, including The First Affiliated Hospital of Nanjing Medical University, from March 2021 to December 2022 were collected. There were 1 732 males and 1 154 females, aged 65(57,71)years. Under the framework of the Jiangsu Provincial Pancreatic Disease Quality Control Project, the Jiangsu Quality Control Center for Pancreatic Diseases adopted a multi-center registration research method to establish a provincial electronic database for pancrea-ticoduodenectomy. Observation indicators: (1) clinical characteristics; (2) intraoperative and post-operative conditions; (3) influencing factors for 90-day mortality after pancreaticoduodenectomy. Measurement data with skewed distribution were represented as M( Q1, Q3) or M(IQR), and comparison between groups was conducted using the Mann-Whitney U test. Count data were expressed as absolute numbers or constituent ratio, and comparison between groups was conducted using the chi-square test, continuity correction chi-square test and Fisher exact probability. Maximal Youden index method was used to determine the cutoff value of continuous variables. Univariate analysis was performed using the corresponding statistical methods based on data types. Multivariate analysis was performed using the Logistic multiple regression model. Results:(1) Clinical characteristics. Of the 2 886 patients who underwent pancreaticoduodenectomy, there were 1 175 and 1 711 cases in 2021 and 2022, respectively. Of the 21 hospitals, 8 hospitals had an average annual surgical volume of <36 cases for pancreaticoduodenectomy, 10 hospitals had an average annual surgical volume of 36-119 cases, and 3 hospitals had an average annual surgical volume of ≥120 cases. There were 2 584 cases performed pancreaticoduodenectomy in thirteen hospitals with an average annual surgical volume of ≥36 cases, accounting for 89.536%(2 584/2 886)of the total cases. There were 1 357 cases performed pancrea-ticoduodenectomy in three hospitals with an average annual surgical volume of ≥120 cases, accounting for 47.020%(1 357/2 886) of the total cases. (2) Intraoperative and postoperative conditions. Of the 2 886 patients, the surgical approach was open surgery in 2 397 cases, minimally invasive surgery in 488 cases, and it is unknown in 1 case. The pylorus was preserved in 871 cases, not preserved in 1 952 cases, and it is unknown in 63 cases. Combined organ resection was performed in 305 cases (including vascular resection in 209 cases), not combined organ resection in 2 579 cases, and it is unknown in 2 cases. The operation time of 2 885 patients was 290(115)minutes, the volume of intra-operative blood loss of 2 882 patients was 240(250)mL, and the intraoperative blood transfusion rate of 2 880 patients was 27.153%(782/2 880). Of the 2 886 patients, the invasive treatment rate was 11.342%(327/2 883), the unplanned Intensive Care Unit (ICU) treatment rate was 3.087%(89/2 883), the reoperation rate was 1.590%(45/2 830), the duration of postoperative hospital stay was 17(11)days, the hospitalization mortality rate was 0.798%(23/2 882), and the failure rate of rescue data in 2 083 cases with severe complications was 6.529%(19/291). There were 2 477 patients receiving postoperative 90-day follow-up, with the 90-day mortality of 2.705%(67/2477). The total incidence rate of complication in 2 886 patients was 58.997%(1 423/2 412). The incidence rate of severe complication was 13.970%(291/2 083). The comprehensive complication index was 8.7(22.6) in 2 078 patients. (3) Influencing factors for 90-day mortality after pancreaticoduodenectomy. Results of multivariate analysis showed that age ≥ 70 years, postoperative invasive treatment, and unplanned ICU treatment were independent risk factors for 90-day mortality after pancreaticoduodenectomy ( odds ratio=2.403, 2.609, 16.141, 95% confidence interval as 1.281-4.510, 1.298-5.244, 7.119-36.596, P<0.05). Average annual surgical volume ≥36 cases in the hospital was an independent protective factor for 90-day mortality after pancreaticoduodenectomy ( odds ratio=0.368, 95% confidence interval as 0.168-0.808, P<0.05). Conclusions:Pancreaticoduodenectomy in Jiangsu Province is highly con-centrated in some hospitals, with a high incidence of postoperative complications, and the risk of postoperative 90-day mortality is significant higher than that of hospitallization mortality. Age ≥ 70 years, postoperative invasive treatment, and unplanned ICU treatment are independent risk factors for 90-day motality after pancreaticoduodenectomy, and average annual surgical volume ≥36 cases in the hospital is an independent protective factor.
2.Based on Wnt/β-Catenin Signal Pathway to Explore the Mechanism of Tongluotangtai Recipe on GK Rats with Diabetes Peripheral Neuropathy
Jiushu YUAN ; Xueru WANG ; Susu HUANG ; Jie XU ; Huixuan ZHANG ; Hong GAO ; Lian DU ; Chunguang XIE
World Science and Technology-Modernization of Traditional Chinese Medicine 2023;25(9):2950-2958
Objective Exploring the effect of Tong luo tang tai(TLTT)on diabetic peripheral neuropathy(DPN)in GK rats with Wnt/β-The influence of the catenin signaling pathway.Methods Fifty GK rats were randomly divided into model group,TLTT high,medium,and low dose groups,and Western medicine group,with 10 rats in each group.Another 10 wistar rats were selected as the normal group.Except for the normal group,all other groups were fed with high fat to prepare DPN rat models.After 15 weeks,the DPN model was successfully prepared,and the rats in each group were treated by gavage.The high,medium,and low dose groups of TLTT were given traditional Chinese medicine TLTT 28 g·kg-1,14 g·kg-1,and 7 g·kg-1,respectively.The western medicine group was given metformin 100 mg·kg-1 and mecobalamin 0.2 mg·kg-1 by gavage.Rats in each group were administered once a day for 8 consecutive weeks.The general state,fasting blood sugar(FBS),thermal contraction latency(TWL),motor nerve conduction velocity(MNCV),and pathological changes in the sciatic nerve tissue were observed under transmission electron microscopy(Real time PCR)Western blot detection of wingless MMTV integration site family member 3A(Wnt3a)β Catenin(β-Catenin,Glycogen Synthesis Kinase-3β Glycogen synthesis kinase-3β,GSK-3β)MRNA and protein expression levels of antagonists(WNT inhibitor factor-1,Wif-1)on the Wnt signaling pathway.Results Compared with the normal group,the model group showed poorer general condition and significant pathological ultrastructural changes in the sciatic nerve.Its FBS level increased(P<0.01),TWL level decreased(P<0.01),and MNCV significantly slowed down(P<0.01).The model group had Wnt3a β-Catenin,GSK-3β MRNA and protein expression levels decreased(P<0.05),while Wif-1 mRNA and protein expression levels increased(P<0.01).After drug intervention,compared with the model group,the general condition and pathological ultrastructure of the sciatic nerve were improved in the TLTT high,medium,low,dose,and Western medicine groups,with a decrease in FBS levels(P<0.01)and an increase in TWL levels(P<0.05).The MNCV of each TLTT dose group and Western medicine group was significantly improved(P<0.01).The Wnt3amRNA of the TLTT high-dose group and Western medicine group was significantly increased(P<0.05),while the Wif-1mRNA of the TLTT high-dose group and Western medicine group was significantly reduced(P<0.05),There was a significant increase in Wnt3 protein in the high-dose and Western medicine groups of TLTT(P<0.01),as well as in the high-dose,medium,and low-dose TLTT and western medicine groups β-Catenin protein significantly increased(P<0.01,P<0.05),with high,medium,and low doses of TLTT and Western medicine group GSK-3β The protein significantly increased(P<0.01,P<0.05),while the Wif-1 protein significantly decreased(P<0.01,P<0.05)in the high and medium dose TTLTT and western medicine groups.Conclusion Tongluo Tangtai can alleviate sciatic nerve injury in DPN to a certain extent,and its mechanism may be related to the activation of Wnt/β,the catenin signaling pathway is involved.
3.Efficacy and safety of TBI+rATG-based conditioning regimen for haploidentical allogeneic hematopoietic stem cell transplantation in 11 cases of chemotherapy-resistant advanced peripheral T-cell lymphoma
Rong XU ; Su LI ; Huixia LIU ; Daolin WEI ; Ying JIANG ; Jingjing WANG ; Susu LIU ; Chun WANG ; Jun ZHU
Chinese Journal of Hematology 2023;44(7):578-581
Objective:To evaluate the clinical outcomes and safety of haploidentical hematopoietic stem cell transplantation (haplo-HSCT) using a conditioning regimen based on total body irradiation (TBI) and rabbit anti-human thymocyte globulin (rATG) in the management of chemotherapy-resistant advanced peripheral T-cell lymphoma (PTCL) .Methods:Clinical data of 11 patients with chemotherapy-resistant advanced PTCL who underwent haplo-HSCT with a TBI+rATG-based conditioning regimen at the Department of Hematology, Shanghai Liquan Hospital and Shanghai Zhaxin Integrated Traditional Chinese and Western Medicine Hospital, from September 2019 to December 2022 were retrospectively analyzed.Results:①Among the 11 patients (six males and five females), with a median age of 40 years (range: 22-58 years), there were six cases of PTCL, not otherwise specified (PTCL-NOS), three cases of angioimmunoblastic T-cell lymphoma (AITL), one case of large-cell transformation of mycosis fungoides (MF-LCT), and one case of T-cell large granular lymphocytic leukemia (T-LGLL). According to the Lugano staging system, all patients were in stage Ⅲ or Ⅳ, and eight patients had B symptoms. Before transplantation, the median number of prior lines of chemotherapy was 4 (range: 2-10), and all patients had progressive disease (PD). The median time from diagnosis to transplantation was 17 months (range: 6-36 months). ②The conditioning regimen consisted of a TBI dose of 10 Gy, administered at 2 Gy on day -8 and 4 Gy from day -7 to day -6, rATG was administered at a daily dose of 2.5 mg/kg from day -5 to day -2. Etoposide (VP-16) was given at a dose of 15 mg/kg/d from day -5 to day -4, while cyclophosphamide (CTX) was administered at a dose of 50 mg/kg/d from day -3 to day -2. In patients with central nervous system involvement, etoposide and cyclophosphamide were replaced with thiotepa (TT) at a dose of 5 mg/kg/d from day -5 to day -4. Additionally, cytarabine (Ara-C) was added at a dose of 2.0 g/m 2 twice a day from day -3 to day -2 into the conditioning. ③Successful engraftment was achieved in all patients, with a median time to neutrophil engraftment of 14.5 d (range: 11-16 d) and a median time to platelet engraftment of 13 days (range: 8-18 days). Acute graft-versus-host disease (aGVHD) occurred in one patient (grade Ⅰ-Ⅱ), and another patient experienced grade Ⅲ-Ⅳ aGVHD. Among the eight survivors, four developed chronic GVHD (cGVHD). ④Post-transplantation, nine patients achieved complete response (CR). ⑤Hematopoietic suppression occurred in all patients after conditioning, with three experiencing diarrhea, four developing mucositis, three exhibiting elevated transaminase/bilirubin levels, and seven developing infectious complications. These non-hematologic adverse events were effectively managed. ⑥At one year post-transplantation, the non-relapse mortality (NRM) was (22.5±14.0) %, the cumulative incidence of relapse (CIR) was (20.2±12.7) %, and overall survival (OS) rate was (72.7±13.4) %, and disease-free survival (DFS) rate was (63.6±14.5) % . Conclusion:TBI+rATG-based conditioning regimen for haplo-HSCT is an effective and safe treatment approach for patients with chemotherapy-resistant advanced PTCL.
4.Treatment of septate uterus.
Baiyu ZHANG ; Susu WU ; Xingping ZHAO ; Lin TAN ; Dabao XU
Journal of Central South University(Medical Sciences) 2022;47(11):1487-1494
Although there is insufficient evidence supporting the link between septate uterus and infertility, there are many studies demonstrated the effect of spetal incision on pregnancy in women diagnosed with septate uterus associated with infertility. Hysteroscopic metroplasty can significantly improve the reproductive performance of those with septate uterus. Some Müllerian malformations can be healed by surgery. The accurate diagnosis and appropriate therapeutic approch are fundamental for successful treatment. Any attempt at surgical correction of uterine abnormalities must be aimed at preserving or improving reproductive function. Among congenital uterine anomalies, septate uterus is the most amenable to simple hysteroscopic treatment. The resection of the septum is performed as standard treatment worldwide.
Female
;
Humans
;
Septate Uterus
5.Development and application of quality checklist for the prevention and control of COVID-19 in fever clinic and isolation ward of the general hospital.
Chenping ZHU ; Haixiang ZHU ; Susu HUANG ; Yuhua YUAN ; Yiyu ZHUANG ; Hongying PAN ; Hongxia XU ; Hongfang ZHU ; Huiyin CHEN ; Lili CHENG
Journal of Zhejiang University. Medical sciences 2021;50(1):74-80
To develop a quality control checklist for the prevention and control of coronavirus disease 2019 (COVID-19) in fever clinic and isolation ward of the general hospital and to assess its application. Based on the relevant prevention and control plans and technical guidelines for COVID-19,Delphi method was used to identity items for evaluation,and a quality control checklist for the prevention and control of COVID-19 in the fever clinic and isolation ward was developed in Sir Run Run Shaw Hospital. The checklists included 8 dimensions and 32 items for fever clinic,7 dimensions and 27 items for the isolation ward. The appointed inspectors conducted daily quality control for each shift with this checklist. The expert authority coefficient was 0.88,the mean of the importance of each index in the quality control table was not less than 4.8,and the coefficient of variation was not more than 0.07. During the entire February 2020,8 problems were found and rectified on-the-spot with the application of the checklist. Quality inspection rate was 100% in both isolation wards and fever clinic. The compliance rate and accuracy rate of hand hygiene were 100%; the correct rate of wearing and removing protective equipment increased from 96% to 100%. During the same period,a total of 1915 patients were admitted to the fever clinic,including 191 suspected patients (all were isolated in the hospital,3 were confirmed). There were no medical staff infected with COVID-19,no cross infection of patients and their families in the hospital. A quality control checklist for the prevention and control of COVID-19 has been developed and applied in the isolation wards and fever clinic,which plays an important role in preventing nosocomial infection.
COVID-19
;
Checklist
;
Fever
;
Hospitals, General
;
Humans
;
SARS-CoV-2
6.Association of tumor necrosis factor receptor-associated protein 1 gene copy number variation with susceptibility and clinical characteristics of systemic lupus erythematosus
Susu LI ; Jianhua XU ; Shuang LIU ; Jing CAI ; Shengxiu LIU ; Hailiang HUANG ; Long QIAN ; Chunhuai WANG ; Haifeng PAN ; Faming PAN ; Hong SU ; Yanfeng ZOU
Chinese Journal of Rheumatology 2019;23(2):89-94
Objective To explore whether tumor necrosis factor receptor-associated protein 1 (TRAP1)gene copy number variation was associated with susceptibility and clinical characteristics of systemic lupus erythematosus (SLE).Methods The study enrolled 304 SLE patients and 391 healthy controls.They were used to investigate the association between TRAP1 gene copy number variation and SLE susceptibility.Then,304 SLE patients were divided into copy number=2 group and copy number>2 group to study the association between TRAP1 gene copy number variation and disease activity or clinical characteristics of SLE.AccuCopyTM Kit was used to detect the TRAP1 gene copy number.Data analyses were performed by SPSS 10.01 software.The suitable method was selected among t test,rank sum test and x2 test for analysis based on the data type and distribution,univariate and multivariate logistic regression analysis were performed to investigate the associ-ation between TRAP1 gene copy number variation and susceptibility and clinical characteristics of SLE.Results The copy number variation of TRAP1 gene showed an association with the susceptibility to SLE crude OR=5.257,95%CI (1.108,24.937),P=0.037;the adjusted OR=5.578,95%CI (1.172,26.556),P=0.031].There was no association between TRAP1 gene copy number variation and SLE disease activity index (SLEDAI) score (Z=-0.117,P=0.907).The copy number variation of TRAP1 gene had a marginal association with skin lesions in SLE [OR=0.130,95%CI (0.016,1.069),P=0.058],but it disappeared after adjusting for potential confounders [OR=0.288,95%CI (0.029,2.831),P=0.286,PBH=0.808].There was no correlation between TRAP1 gene copy number variation and arthritis,alopecia,oral ulcers,fever,hematologic disorder,lupus nephritis as well as photosensitivity in SLE [x2=0.751,OR=1.234,95%CI (0.767,1.988),P=0.386].No multiplicative interaction was found between TRAP1 gene copy number variation and age or body mass index (BMI) [age:x2=0.751,OR=1.234,95%CI (0.767,1.988),P=0.386;BMI:x2=0.282,OR=1.172,95%CI(0.652,2.109),P=0.596].Conclusions The copy number variation of TRAP1 gene may be associated with susceptibility to SLE.Increased TRAP1 gene copy number may be a risk factor for SLE.
7. Role of hippocampal mast cells in early postoperative cognitive impairment in rats
Susu ZHANG ; Xiaofeng SHEN ; Shiqin XU ; Yanning QIAN ; Xiaodi SUN
Chinese Journal of Anesthesiology 2019;39(8):920-923
Objective:
To evaluate the role of hippocampal mast cells in the early postoperative cognitive impairment in rats.
Methods:
Eighty male Sprague-Dawley rats, aged 6-8 weeks, weighing 200-250 g, were divided into 4 groups (
8. Implication of BRAF V600E and CTNNB1 gene mutations in the pathological classification of craniopharyngioma
Susu XU ; Leiming WANG ; Lihong ZHAO ; Zhili HE ; Liping GONG ; Dehong LU ; Lianghong TENG
Chinese Journal of Pathology 2019;48(9):682-687
Objective:
To investigate the clinicopathological significance of BRAF V600E and CTNNB1 gene mutations in adamantinomatous craniopharyngiomas (ACP) and papillary craniopharyngiomas (PCP).
Methods:
The retrospective study included a total of 67 craniopharyngiomas diagnosed from October 2009 to August 2018 at Xuanwu Hospital, Capital Medical University. The immunohistochemical staining for β-catenin and BRAF V600E expression, Sanger sequencing of exon 3 of CTNNB1, BRAF mutation analysis by scorpions amplification refractory mutation system (ARMS) fluorescence quantitative PCR were performed. Univariate survival analysis was used to correlate with tumor recurrence.
Results:
Of the 67 patients, 53 were ACPs and 14 were PCPs. Four patients underwent multiple operations and one of them presented with malignant transformation into squamous cell carcinoma. Histologically, ACPs were characterized by whorl-like cell clusters, peripheral palisaded layer, stellate reticulum, finger-shaped protrusions, ghost cells and wet keratinous substances. While PCPs usually consisted of mature squamous epithelium associated with fibrovascular stroma resulting in papillary appearance. The nuclear immunopositivity for β-catenin was observed in 73.6% (39/53) of ACPs, and it was absent in PCPs (0/14). The nuclear translocation of β-catenin usually presented at whorl-like structures or around ghost cells. Of all the cases, mutations analysis in exon 3 of β-catenin gene CTNNB1 were successful in 46 cases and 42.1% (16/38) of ACP showed CTNNB1 gene mutation, while none of the PCPs harbored CTNNB1 gene mutation (0/8). The cytoplasmic immunopositivity for BRAF V600E mutant protein was found in all PCPs (14/14) and negative in all ACPs (0/53). ARMS-PCR results showed that BRAF V600E mutations were observed in 13/14 of PCPs but not seen in ACPs (0/53). Follow-up data were available in 35 patients with duration of 2 to 120 months. Ten patients experienced recurrences after the first surgery. Upon univariate survival analysis, only subtotal excision was found to be associated with increased recurrence (
9.Implication of BRAF V600E and CTNNB1 gene mutations in the pathological classification of craniopharyngioma
Susu XU ; Leiming WANG ; Lihong ZHAO ; Zhili HE ; Liping GONG ; Dehong LU ; Lianghong TENG
Chinese Journal of Pathology 2019;48(9):682-687
Objective To investigate the clinicopathological significance of BRAF V600E and CTNNB1 gene mutations in adamantinomatous craniopharyngiomas (ACP) and papillary craniopharyngiomas (PCP). Methods The retrospective study included a total of 67 craniopharyngiomas diagnosed from October 2009 to August 2018 at Xuanwu Hospital, Capital Medical University. The immunohistochemical staining for β?catenin and BRAF V600E expression, Sanger sequencing of exon 3 of CTNNB1, BRAF mutation analysis by scorpions amplification refractory mutation system (ARMS) fluorescence quantitative PCR were performed. Univariate survival analysis was used to correlate with tumor recurrence. Results Of the 67 patients, 53 were ACPs and 14 were PCPs. Four patients underwent multiple operations and one of them presented with malignant transformation into squamous cell carcinoma. Histologically, ACPs were characterized by whorl?like cell clusters, peripheral palisaded layer, stellate reticulum, finger?shaped protrusions, ghost cells and wet keratinous substances. While PCPs usually consisted of mature squamous epithelium associated with fibrovascular stroma resulting in papillary appearance. The nuclear immunopositivity for β?catenin was observed in 73.6% (39/53) of ACPs, and it was absent in PCPs (0/14). The nuclear translocation of β?catenin usually presented at whorl?like structures or around ghost cells. Of all the cases, mutations analysis in exon 3 of β?catenin gene CTNNB1 were successful in 46 cases and 42.1% (16/38) of ACP showed CTNNB1 gene mutation, while none of the PCPs harbored CTNNB1 gene mutation (0/8). The cytoplasmic immunopositivity for BRAF V600E mutant protein was found in all PCPs (14/14) and negative in all ACPs (0/53). ARMS?PCR results showed that BRAF V600E mutations were observed in 13/14 of PCPs but not seen in ACPs (0/53). Follow?up data were available in 35 patients with duration of 2 to 120 months. Ten patients experienced recurrences after the first surgery. Upon univariate survival analysis, only subtotal excision was found to be associated with increased recurrence (P=0.032), while pathological type, postoperative radiotherapy and CTNNB1 gene mutation were not (P>0.05). Conclusions There is significant difference in the expression of BRAF V600E and CTNNB1 genes between ACP and PCP, and their immunohistochemical and molecular detection therefore can be used in the diagnosis and differential diagnoses of craniopharyngiomas.
10.Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency.
Kuangyi SHU ; Kai XU ; Fanfan LI ; Tao CHEN ; Jie LIU ; Susu JIN ; Jingjing GUO ; Zhaohua ZHANG ; Minghua JIANG
Chinese Journal of Medical Genetics 2018;35(4):522-526
OBJECTIVETo investigate the phenotype and genotype defect characteristics of a Chinese patient with hereditary factor XI deficiency.
METHODSThe activated partial thromboplastin time (APTT), prothrombin time (PT), FXI activity (FXI:C) of the proband and his relatives were measured by a clotting method using automatic coagulation analyzer. FXI antigen (FXI:Ag) was assayed by enzyme-linked immunosorbent assay (ELISA). Fifteen exons of the F11 gene were amplified by PCR and sequenced. Pymol software was used to analyze the novel mutations.
RESULTSThe APTT of the proband was significantly prolonged (70.3 s, reference 34.5 s) with decreased FXI activity (6%, reference 50%-150%) and FXI antigen (1.9%, reference 50%-150%). The FXI activity and FXI antigen of his son was 31% and 39%, respectively. Two heterozygous F11 mutations were identified in the proband, which included a G to T substitution at nucleotide 1296 in exon 11 resulting in substitution of glycine by valine at codon 400 (p.Gly400Val) and a A to T substitution at nucleotide 1691 in exon 14 resulting in substitution of arginine (AGA) by a termination codon (TGA) at codon 532 (p.Arg532Ter). Analysis using Pymol indicated that the number of hydrogen bonds has changed, which led to a transformation of the structure of the FXI protein. The son of the proband was found to be heterozygous for the c.1296G to T (p.Gly400Val) mutation. NM_13142 c.1691A to T (p.Arg532Ter) is a novel mutation based on HGMD professional 2016.4. Based on 2015 Guidelines of ACMG, it is PVS1 (very strong pathogenicity).
CONCLUSIONThe compound heterozygous mutations of F11 NM_13142 c.1296G to T (p.Gly400Val) and F11 NM_13142 c.1691A to T(p.Arg532Ter) probably underlies the FXI deficiency in the proband.

Result Analysis
Print
Save
E-mail