1.Clinical and genetic analysis of children with developmental and epileptic encephalopathy 8 caused by ARHGEF9 gene variants
Zhi LEI ; Xuan ZHENG ; Lei LIU ; Zhipeng JIN ; Wenhui NING ; Daoqi MEI ; Pengbo GUO ; Yanhong WANG ; Yaodong ZHANG ; Shiyue MEI
Chinese Journal of Neurology 2023;56(3):305-312
Objective:To analyze the clinical characteristics and genetic variation of 2 children with developmental and epileptic encephalopathy 8 (DEE8).Methods:Whole-exome sequencing (WES) was performed to determine the potential variants in the probands. Candidate variants identified by WES were validated by Sanger sequencing and quantitative real-time polymerase chain reaction. X chromosome inactivation (XCI) detection was performed in the proband 1′s mother and proband 2 to detect the allelic expression difference of ARHGEF9. Results:Both of the cases showed global developmental delay. Proband 1 presented with delayed motor and speech development, intellectual disability, and seizures. Electroencephalography of proband 1 showed slow background activity, with spikes, spike and waves in bilateral frontal and midline regions during sleep. While proband 2 showed delay in acquisition of language, motor skills, and cognition, but no seizures. It was identified that proband 1 carried a novel maternally derived heterozygous splicing variant (c.925-2A>T) in ARHGEF9 by WES, which was verified in Sanger sequencing. The XCI in proband 1′s mother was observed, and the expression ratio of mutant ARHGEF9 and wild-type was 0∶100%. A novel exon 3-10 heterozygous deletion of ARHGEF9 was identified in proband 2, and this variant was not found in his unaffected parents. Conclusions:DEE8 disorders are relatively rare. Most of the patients have varying degrees of neurodevelopmental phenotype, but epilepsy is not a specific clinical manifestation. ARHGEF9 gene deletion and splicing variation may be the genetic cause of the 2 probands, and above findings have enriched the spectrum of variation and phenotype of DEE8.
2.Fetoscopic laser coagulation for placental chorioangioma: a report of three cases and literature review
Xiaonan XU ; Yuan WEI ; Shuqin ZHANG ; Xiaoyue GUO ; Xueju WANG ; Pengbo YUAN ; Yangyu ZHAO
Chinese Journal of Perinatal Medicine 2023;26(4):298-304
Objective:To evaluate the outcome of laser coagulation under fetoscope for placental chorioangioma (CA).Methods:The clinical data of three pregnant women with giant CA treated by laser coagulation under fetoscope in Peking University Third Hospital from January 2018 to December 2020 were analyzed retrospectively. Relevant articles up to September 2022 were retrieved from Wanfang Database, China National Knowledge Infrastructure and PubMed, and the clinical data of all patients were retrospectively summarized. Indications and intervention effects of fetoscopic laser therapy were analyzed. Descriptive statistics was used to describe the data.Results:Thirteen patients were involved in this study including 10 cases retrieved from the databases. The average age of the pregnant women was (30.3±6.2) years old. There were 12 cases of single pregnancy and one case of twin pregnancy (monochorionic diamnionic twin pregnancy). Except for cases for which data were not available in the literatures, at the diagnosis of CA, the average gestational age was (19.9±4.5) weeks ( n=7) and the average maximum diameter of the mass was (6.1±4.1) cm ( n=6). The patients underwent fetoscopic laser therapy at an average gestational age of (25.0±2.0) weeks ( n=13) with the average maximum tumor diameter of (7.6±2.8) cm ( n=9). After treatment, the amniotic fluid volume of three cases decreased to normal. In one case, the amniotic fluid volume decreased but was still above the upper limit of the normal range. Moreover, the maximum tumor diameter decreased in four cases; the peak systolic velocity of the fetal middle cerebral artery decreased to normal in one case; fetal heart function became normal in two cases and fetal edema was relieved in one case. Among the three patients treated in our hospital, the blood supply of CA disappeared after treatment. Intrauterine fetal death occurred in two cases. The other 11 patients gave birth to live babies at the gestational age of (36.6±3.8) weeks with five through cesarean section (5/11), five through vaginal delivery (4/11) and two not reported. The birth weight of the neonates was (2 712±1 023) g and all of them survived. The gender of five neonates were reported and all were females, two of them were monochorionic diamnionic twins. No abnormality was found in the three neonates delivered in our hospital during a six-month follow-up. No abnormality was reported in the other neonates during ten days to six months of follow-up. Conclusions:Fetoscopic laser coagulation may help reduce the size of CA, decrease complications and improve pregnancy outcomes.
3.Treatment of Renal Hematuria with Traditional Chinese Medicine: A Review
Yang LIU ; Luxuan GUO ; Na HAO ; Pengbo ZHAO ; Jiaqi LI
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(19):267-274
Renal hematuria is caused by glomerular damage and basement membrane rupture due to coagulation dysfunction, ischemia and hypoxia, and immune function damage, resulting in red blood cells exuding through glomerular filtration membrane and excreting with urine. It is mainly manifested as microscopic and macroscopic hematuria. Among them, microscopic hematuria is characterized by microscopic urine sediment examination, there are three or more red blood cells per high-power microscopic field. Traditional Chinese medicine (TCM) believes that the pathogenesis of renal hematuria always belongs to ''asthenia in origin and sthenia in superficiality'', and ''asthenia in origin'' is caused by the deficiency of the three viscera of the lung, spleen, and kidney, while ''sthenia in superficiality'' is caused by the combination of dampness and blood stasis and the external disturbance of wind pathogens. The key pathogenesis features are ''deficiency, dampness, heat, blood stasis, and wind''. After consulting the TCM literature related to renal hematuria, the author found that the common syndrome types of renal hematuria in clinical practice were the deficiency of both Qi and Yin, the deficiency of both Yin and fire, the unsteadiness of kidney Qi, the deficiency of spleen and kidney Yang, the wind heat hurting the collateral, the dampness-heat blocking, and the blood stasis and internal resistance. The commonly used classical or temporal prescriptions included Shenqi Dihuangtang(参芪地黄汤), Zhibai Dihuangtang(知柏地黄汤), Wubi Shanyaowan(无比山药丸), Jisheng Shenqiwan(济生肾气丸), Sishenwan(四神丸), Yinqiaosan(银翘散), Bazhengsan(八正散), Sanrentang(三仁汤), Xuefu Zhuyutang(血府逐瘀汤), Danggui Shaoyaosan(当归芍药散), Xiaoji Yinzi(小蓟饮子), Buzhong Yiqitang(补中益气汤), et al. Self prepared prescriptions mainly include Tongluo Ningxue prescription (通络宁血方), Qingre Zhixue prescription( 清热止血方) and Wuteng Tongluo drink (五藤通络饮). The traditional Chinese medicine is commonly used for the treatment of Xueniaoling granules(血尿灵冲剂), Xueniaoan capsules(血尿安胶囊), Ningmitai capsules(宁泌泰胶囊), Huangkui capsules(黄葵胶囊) and Yishen nixuexiao granules(益肾溺血消颗粒), which constantly enriched the treatment of renal hematuria. The combination of TCM and western medicine has obvious advantages. The treatment of renal hematuria in clinical practice often combines with modern medical methods, which has a good therapeutic effect on the improvement of symptoms and indicators of renal hematuria. At present, many doctors have made in-depth exploration on the etiology, pathogenesis, and clinical treatment of renal hematuria, but few scholars have made detailed induction and collation in recent years. Therefore, the author has collated the clinical data on the treatment of renal hematuria with TCM in the past ten years, and reviewed it from the aspects of etiology, pathogenesis, and clinical research, to provide useful references for clinical intervention and delay the progress of renal disease.
4.Childhood onset spinocerebellar ataxia type 2: a family report and literature review
Jing LIU ; Daoqi MEI ; Pengbo GUO ; Mengjun XIAO ; Zhenhua XIE ; Xian LI ; Qiang ZHANG ; Dongxiao LI
Chinese Journal of Neurology 2022;55(5):490-496
Objective:To investigate the clinical characteristics, genetic characteristics and diagnosis of spinocerebellar ataxia type 2 (SCA2) patients with childhood onset.Methods:The clinical data of a SCA2 pedigree who diagnosed at Neurogenetic Metabolic Disease Clinic of Children′s Hospital Affiliated to Zhengzhou University in July 2019 were collected, and the reported cases of childhood-onset SCA2 were reviewed. The CAG repeat of ATXN2 gene was detected by polymerase chain reaction, capillary gel electrophoresis and Sanger sequencing techniques.Results:A total of 9 people in 4 generations of the family were affected, showing an autosomal dominant inheritance. The proband was a 3 years and 4 months old boy, who showed abnormal symptoms at 9 months which manifested as developmental retardation. At 1 year old, he developed progressive regression which represented neither to be amused, recognize others, stand and walk alone, nor had language development. Meanwhile, he had difficulty swallowing, long-term constipation, and a history of convulsions. His sister and mother were not yet sick. His grandmother could not walk, had slurred speech accompanied by nystagmus, and magnetic resonance imaging showed cerebellar atrophy. His granduncles and grandaunts had unstable walking and dysarthria. His great-grandfather required wheelchair to walk. This pedigree showed an autosomal dominant inheritance. One of the ATXN2 gene alleles of the proband, his sister, mother and grandmother all showed abnormal amplification with 99, 55, 44, and 43 times respectively and no inserting CAA sequence. A total of 14 literatures reported 20 cases of childhood-onset SCA2 patients who were genetically diagnosed. The majorities had onset in infancy, and few can develop into school age. The main clinical manifestations were developmental delay, dystonia or insufficiency, myoclonus or infantile spasms, motor retardation, abnormal eye movement, retinitis pigmentosa and dysphagia, while the classic cerebellar syndrome was only partially present. Abnormal rhythm was found on electroencephalogram, cerebellar atrophy on magnetic resonance imaging or CT of the head.Conclusions:This case is the youngest genetically-confirmed SCA2 patient reported in China. Reported patients usually have onset in infancy with excessive repeat sequence expansion. Their clinical characteristics are different from the classic patients and could only be diagnosed by dynamic mutation detection.
5.Clinical characteristics and genetic analysis of a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to compound heterozygous variants of RRM2B gene.
Yanhong WANG ; Xuan ZHENG ; Xiangdie WANG ; Xiaoman ZHANG ; Pengbo GUO ; Lei LIU ; Shiyue MEI
Chinese Journal of Medical Genetics 2022;39(1):26-30
OBJECTIVE:
To analyze the clinical characteristics and pathogenic gene in a Chinese pedigree affected with mitochondrial DNA depletion syndrome 8A (MTDPS8A).
METHODS:
Whole exome sequencing was carried out for the patient. Sanger sequencing was used to verify the results, and PolyPhen-2 and PROVEAN software were used to predict the impact of amino acid changes on the function of the protein.
RESULTS:
The patient, a two-month-old female, was admitted to the hospital for poor milk intake and poor mental response. Her clinical manifestations included feeding difficulty, shortness of breath and low muscle tone. Auxiliary laboratory test indicated that the infant was underdeveloped with abnormal liver, kidney, and heart functions accompanied by hyperlacticacidemia. She responded poorly to treatment and eventually died. Sequencing revealed that the child has carried compound heterozygous missense variants of the RRM2B gene, namely c.16delA (p.R6Gfs*22) and c.175G>C (p.A59P), which were respectively inherited from her father and mother, and both were newly discovered pathologic variants.
CONCLUSION
The c.16delA and c.175G>C compound heterozygous variants of the RRM2B gene probably underlay the pathogenesis of MTDPS8A. Above finding has strengthened the understanding of the clinical feature and genetic etiology of this disease and expanded the mutation spectrum of the RRM2B gene.
Cell Cycle Proteins
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Child
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China
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DNA, Mitochondrial/genetics*
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Female
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Genetic Testing
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Humans
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Infant
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Mutation
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Pedigree
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Ribonucleotide Reductases
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Whole Exome Sequencing
6.Fetoscopic cord laser therapy in management of monochorionic monoamniotic twin pregnancies
Ying WANG ; Pengbo YUAN ; Xiaonan XU ; Xueju WANG ; Xiaoyue GUO ; Jing YANG ; Cheng ZHAO ; Yuan WEI ; Yangyu ZHAO
Chinese Journal of Perinatal Medicine 2021;24(11):806-812
Objective:To analyze fetoscopic cord laser therapy for management of monochorionic monoamniotic (MCMA) twin pregnancies.Methods:The clinical data of fetoscopic cord laser therapy, including cord occlusion, transection, and disentanglement in three pairs of MCMA twins from January 2020 to January 2021 in Peking University Third Hospital were summarized. Literature on cord occlusion and/or transection in MCMA twins were retrieved from Cochrane Library, PubMed, EMBASE, CBM, WanFang, and CNKI from the time at establishment to December 2020. The clinical conditions, surgical indications and methods, disease progression, and maternal and infant prognosis were analyzed.Results:Three cases of MCMA twins in this study period received fetoscopic cord laser therapy between 17-24 weeks, among which two cases gave birth at full-term without any maternal or infant complications, and one was terminated due to fetal malformation. Seven English articles including 29 MCMA twin pregnancies were retrieved. In addition to the three cases reported in this article, a total of 32 cases were analyzed. The indication of cord occlusion and/or transection included twin-reversed arterial perfusion sequence (21.9%, 7/32), fetal malformation (46.9%, 15/32), selective fetal growth restriction (sFGR) (21.9%, 7/32), twin-to-twin transfusion syndrome (TTTS) (3.1%, 1/32), TTTS combined with sFGR (3.1%, 1/32), single intrauterine death (3.1%, 1/32). Gestational age at surgery was between 14 +1 to 27 +3 weeks. No maternal complication due to the operation was reported. After exclusion of two cases who did not receive cord transection and one case was terminated due to fetal malformation, all the other 29 co-twins were born alive at the gestational age between 24 +3 to 40 weeks and birth weight between 800-3 800 g. Among the 29 live born babies, four died soon after birth with unclarified reasons in the literature and one was born with multiple malformations which were detected prenatally, and the other 24 neonates were healthy during the follow-up from 1 month to 9 years old. Conclusions:For MCMA twin pregnant women with umbilical cord entanglement or other indications for fetal reduction, cord occlusion, transection, and disentanglement using fetoscopic cord laser is safe and effective for protecting the surviving fetus.
7.A multicenter retrospective study on surgical indications of gallbladder polyps: a report of 2 272 cases
Dong ZHANG ; Qi LI ; Xiaodi ZHANG ; Pengbo JIA ; Xintuan WANG ; Xilin GENG ; Yu ZHANG ; Junhui LI ; Chunhe YAO ; Yimin LIU ; Zhihua GUO ; Rui YANG ; Da LEI ; Chenglin YANG ; Qiwei HAO ; Wenbin YANG ; Zhimin GENG
Chinese Journal of Digestive Surgery 2020;19(8):824-834
Objective:To investigate the surgical indications of gallbladder polyps.Methods:The retrospective case-control study was conducted. The clinicopathological data of 2 272 patients with gallbladder polyps who underwent cholecystectomy in 11 medical centers from January 2015 to December 2019 were collected, including 585 in the First Affiliated Hospital of Xi′an Jiaotong University, 352 in No. 215 Hospital of Shaanxi Nuclear Industry, 332 in the First People′s Hospital of Xianyang, 233 in Shaanxi Provincial People′s Hospital, 152 in the Second Affiliated Hospital of Xi′an Jiaotong University, 138 in Xianyang Hospital of Yan′an University, 137 in People′s Hospital of Baoji, 125 in Hanzhong Central Hospital, 95 in Baoji Central Hospital, 72 in Ankang Central Hospital, 51 in Yulin No.2 Hospital. There were 887 males and 1 385 females, aged (48±12)years, with a range from 12 to 86 years. Observation indicators: (1) surgical treatment, pathological examination and hospitalization; (2) follow-up and complications; (3) comparison of clinicopathological data between patients with non-neoplastic polyps and neoplastic polyps; (4) comparison of clinicopathological data among patients who had gallbladder polyp diameter of 7 to 9 mm, 10 to 12 mm, or ≥13 mm without cholecystolithiasis; (5) analysis of influence factors for the incidence of neoplastic polyps in patients who had gallbladder polyp diameter of 10 to 12 mm without cholecystolithiasis; (6) construction and evaluation of nomogram prediction model for neoplastic polyps of patients who had gallbladder polyp diameter of 10 to 12 mm without cholecystolithiasis. Follow-up using outpatient examination or telephone interview was conducted to detect complications and survival of patients up to April 2020. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was analyzed using the t test. Measurement data with skewed distribution were represented as M (range), and comparison between groups was analyzed using the rank-sum test. Ordinal data was analyzed using the rank-sum test of multi-samples. Analysis of influence factors for the incidence of neoplastic polyps was conducted after excluding missing data of CEA and CA19-9. Univariate analysis was conducted using the chi-square test or rank-sum test of multi-samples, and multivariate analysis was conducted using Logistic regression model. Based on Logistic regression model multivariate analysis, the nomogram prediction model was constructed using the R 3.6.0 version software. Results:(1) Surgical treatment, pathological examination and hospitalization: of the 2 272 patients, 2 199 cases underwent laparoscopic cholecystectomy, 43 cases underwent open cholecystectomy, 28 cases underwent radical resection for gallbladder carcinoma, and 2 cases underwent laparoscopic gallbladder preservation and polypectomy. There were 1 050 of the 2 272 patients undergoing intraoperative frozen section examination. Results of pathological examination showed that 1 953 of the 2 272 patients had non-neoplastic polyps including 1 681 cases with cholesterol polyps and 272 cases with inflammatory polyps; 319 cases had neoplastic polyps including 274 with benign polyps (93 cases with adenoma, 66 cases with adenomyoma, 81 cases with adenoma-like hyperplasia, 34 cases with adenoma combined with intraepithelial neoplasia); and 45 cases had malignant polyps including 43 cases with adenocarcinoma, 1 case with adenosquamous carcinoma and 1 case with sarcomatoid carcinoma. The duration of postoperative hospital stay of 2 272 patients was 3 days(range, 1 to 27 days). (2) Follow-up and complications: of the 2 272 patients, 1 932 were followed up for 3.5 to 63.5 months, with a median follow-up time of 31.0 months. During the follow-up, 180 patients had short-term complications and 170 patients had long-term complications. (3) Comparison of clinicopathological data between patients with non-neoplastic polyps and neoplastic polyps: cases with age ≤50 years or >50 years, cases with time from first discovery of polyp to operation <1 year, 1-3 years, >3 years and ≤5 years or >5 years, CEA, CA19-9, CA125, cases with single or multiple polyps in preoperative ultrasonography examination, cases with diameter of polyps in preoperative ultrasonography examination as 1-6 mm, 7-9 mm, 10-12 mm or ≥13 mm, cases with pedicled or broad based polyp wall in preoperative ultrasonography examination, cases with polyp morphology in preoperative ultrasono-graphy examination as nodular, papillary, globular or mulberry-like, cases undergoing or not undergoing intraoperative frozen section examination, cases with diameter of polyps in postoperative pathological examination as 1-6 mm, 7-9 mm, 10-12 mm or ≥13 mm, cases with gallbladder wall thickness in postoperative pathological examination as ≤4 mm or >4 mm of the 1 953 patients with non-neoplastic polyps were 1 118, 835, 1 027, 422, 230, 274, 2.0 mg/L(range, 0.2-8.6 mg/L), 14.5 U/mL(range, 2.6-116.4 U/mL), 10.5 U/mL(range, 1.2-58.7 U/mL), 658, 1 295, 674, 741, 413, 125, 1 389, 564, 407, 1 119, 292, 135, 832, 1 121, 698, 774, 385, 96, 1 719, 234, respectively. The above indicators of the 319 patients with neoplastic polyps were 160, 159, 204, 55, 26, 34, 2.9 mg/L(range, 0.2-28.8 mg/L), 19.7 U/mL(range, 3.5-437.1 U/mL), 15.0 U/mL(range, 1.0-945.0 U/mL), 203, 116, 49, 59, 100, 111, 154, 165, 92, 153, 49, 25, 218, 101, 53, 85, 90, 91, 263, 56, respectively. There were significant differences in the above indicators between the non-neoplastic polyps and neoplastic polyps patients ( χ2=5.599, Z=-3.668, -2.407, -3.023, -3.403, χ2=104.474, Z=-13.367, χ2=65.676, 12.622, 73.075, Z=-11.874, χ2=7.649, P<0.05). (4) Comparison of clinicopathological data among patients who had gallbladder polyp diameter of 7 to 9 mm, 10 to 12 mm, or ≥13 mm without cholecystolithiasis: after excluding 311 of the 2 272 patients with cholecystolithiasis, there were 706 cases with gallbladder polyp diameter of 7 to 9 mm, 459 cases with gallbladder polyp diameter of 10 to 12 mm, and 205 cases with gallbladder polyp diameter ≥13 mm, respectively. Cases with time from first discovery of polyp to operation <1 year, 1-3 years, >3 years and ≤5 years or >5 years, CEA, CA19-9, cases with single or multiple polyps in preoperative ultrasonography examination, cases with pedicled or broad based polyp wall in preoperative ultrasonography examination, cases with polyp morphology in preoperative ultrasonography examination as nodular, papillary, globular or mulberry-like, cases with echo intensity of preoperative ultrasonography examination as slightly strong, medium or weak, cases undergoing or not undergoing intraoperative frozen section examination, and cases with pathological types of polyps as non-neoplastic polyps, benign polyps or malignant polyps of the 706 patients with gallbladder polyp diameter of 7 to 9 mm were 291, 170, 107, 138, 2.2 mg/L(range, 0.5-8.6 mg/L), 21.0 U/mL(range, 2.8-116.4 U/mL), 207, 499, 620, 86, 118, 463, 75, 50, 252, 410, 44, 379, 327, 657, 49, 0, respectively. The above indicators of the 459 patients with gallbladder polyp diameter of 10 to 12 mm were 267, 85, 43, 64, 1.6 mg/L(range, 0.4-9.3 mg/L), 10.4 U/mL(range, 3.3-354.0 U/mL), 205, 254, 237, 222, 158, 223, 51, 27, 222, 213, 24, 263, 196, 373, 79, 7, respectively. The above indicators of the 205 patients with gallbladder polyp diameter ≥13 mm were 128, 38, 20, 19, 2.1 mg/L(range, 0.6-28.8 mg/L), 10.2 U/mL(range, 3.6-307.0 U/mL), 120, 85, 75, 130, 68, 97, 22, 18, 98, 95, 12, 148, 57, 113, 71, 21, respectively. There were significant differences in the above indicators among patients who had gallbladder polyp diameter of 7 to 9 mm, 10 to 12 mm, or ≥ 13 mm ( χ2=46.482, 8.093, 39.504, 66.971, 277.043, 60.945, 19.672, 22.340, 197.854, P<0.05). (5) Analysis of influence factors for the incidence of neoplastic polyps in patients who had gallbladder polyp diameter of 10 to 12 mm without cholecystolithiasis: of the 459 patients who had gallbladder polyp diameter of 10 to 12 mm without cholecystolithiasis, there were 373 cases with non-neoplastic polyps, and 86 cases with neoplastic polyps, respectively. Results of univariate analysis showed that CEA, CA19-9, the number of polyps in preoperative ultrasonography examination, diameter of polyps in preoperative ultrasonography examination, polyp wall in preoperative ultrasonography examination were influence factors for the incidence of neoplastic polyps in patients who had gallbladder polyp diameter of 10 to 12 mm without cholecystolithiasis ( χ2=10.342, 5.616, 20.009, Z=-4.352, χ2=6.203, P<0.05). Results of multivariate analysis showed that CEA>5.0 mg/L, CA19-9>39.0 U/mL, single polyp in preoperative ultrasonography examination, polyp diameter of 11 mm in preoperative ultrasonography examination, polyps of broad base in preoperative ultrasonography examination were independent risk factors for the incidence of neoplastic polyps in patients who had gallbladder polyp diameter of 10 to 12 mm without cholecystolithiasis ( odds ratio=8.423, 0.082, 0.337, 3.694, 2.318, 95% confidence interval: 1.547-45.843, 0.015-0.443, 0.198-0.575, 1.987-6.866, 1.372-3.916, P<0.05). (6) Construction and evaluation of nomogram prediction model for neoplastic polyps of patients who had gallbladder polyp diameter of 10 to 12 mm without cholecystolithiasis: CEA, CA19-9, the number of polyps in preoperative ultrasonography examination, diameter of polyps in preoperative ultrasonography examination, polyp wall in preoperative ultrasonography examination were imported into R 3.6.0 version software to establish the nomogram prediction model for neoplastic polyps. The results showed the score for CEA>5.0 mg/L, CA19-9>39.0 U/mL, cases with single polyp in preoperative ultrasonography examination, cases with polyp diameter of 10 mm in preoperative ultrasonography examination, cases with polyp diameter of 11 mm in preoperative ultrasonography examination, cases with polyp diameter of 12 mm in preoperative ultrasonography examination, polyps of broad base in preoperative ultrasonography examination were 25, 27, 100, 0, 26, 72, 98 in the nomogram prediction model, respectively. The C-index of nomogram prediction model was 0.768. Result of nomogram prediction model showed that the incidence of tumor polyps was 0, 6% and 10% in patients with multiple and pedicled gallbladder polyps with diameter of 10, 11, 12 mm and with CEA ≤5.0 mg/L and CA19-9 ≤39.0 U/mL, the incidence of tumor polyps was 43%, 53% and 70% in patients with single and broad base gallbladder polyps with diameter of 10, 11, 12 mm. The calibration curve showed that the probability of the nomogram prediction model predicting neoplastic polyps was nearly consistent with the actual probability. Conclusions:CEA>5.0 mg/L, CA19-9>39.0 U/mL, single polyp in preoperative ultrasonography examination, polyp diameter of 11 mm in preoperative ultrasonography examination, polyps of broad base in preoperative ultrasonography examination are independent risk factors for the incidence of neoplastic polyps in patients who had gallbladder polyp diameter of 10 to 12 mm without cholecystolithiasis. Cholecystectomy should be performed in time for patients with single and broad based gallbladder polyps with diameter of 10, 11, 12 mm.
8.The study about the change of the blood oxygen saturation and pulse rate of the nursing staff under abrupt highland advancing.
Pengbo YAN ; Bin CHENG ; Yumian GUO ; Liya CHENG ; Mei LU ; Xiang SONG ; Yuanyuan LU
Chinese Journal of Practical Nursing 2019;35(8):561-565
0bjective To evaluate the changes in blood oxygen saturation and pulse rate of the nurses under abrupt highland advancing and provide the fundamentals for those nurses under abrupt highland advancing to Tibet. Methods We selected 12 nursing staffs abruptly advanced to Lhasa at an altitude of 3 650 meters for Abrupt Advancing Group then chose 12 nursing staffs over there for Highland Group from November 2017 to December 2017. To assess whether there is a difference about the change of blood oxygen saturation and pulse rate between these two groups, we measured them in 24 nurses and 360 shifts before work and at 0.5, 1.0, 3.0, 6.0 h after work. Then, we compared the changes in blood oxygen saturation and pulse rate between different ages, sexes, shifts. Results No significant difference in blood oxygen saturation was observed between the two groups before starting work (P > 0.05). Blood oxygen saturation of Abrupt Advancing Group (0.5, 1.0, 3.0, 6.0 h) after work was respectively 0.91±0.01, 0.91±0.02, 0.91±0.02, 0.91±0.01. Meanwhile, the parameters of Highland Group was separately 0.94± 0.02, 0.93 ± 0.01, 0.94 ± 0.01, 0.94 ± 0.01. There was a significant difference between the two groups (t=5.153-8.151, P<0.05 or 0.01). Before work, the pulse rate was (85.38±2.38), (91.62±2.79),(89.79±2.05), (89.12±2.29), (89.72±2.31) times/min for Abruptly Advancing Group, (93.52±2.64), (93.52±2.82), (94.52± 2.73), (94.52±2.56), (93.52±2.96) times/min for Highland Group. The difference between the two groups was statistically significant (t=3.875-10.182, P<0.01). Besides, no difference about the changes in blood oxygen saturation of Abruptly Advancing Group between different shifts was observed (t=3.561-8.321, P<0.05 or 0.01). The difference of pulse rate in Abruptly Advancing Group was statistically significant (t=1.529-4.968, P<0.05 or 0.01). There was no significant difference of blood oxygen saturation and pulse rate in Abruptly Advancing Group between the age of 21 to 30 and 31 to 40 years old, whether before or after work (P > 0.05). A positive difference between the sexes could be found about the changes in the blood oxygen saturation of Abruptly Advancing Group at 0.5, 1.0, 3.0 and 6.0 h after work. What′s more, there was a significant difference in pulse rates before and after work (t=3.283-6.719, P<0.05 or 0.01). Conclusions The nursing staff in the Abruptly Advancing Group shows decreased blood oxygen saturation and increased pulse rate compared to those in the Highland Group during working period. In addition, the changes show more significant in those working at night, but they adapted gradually. Gender and working time have a significant effect on the change in blood oxygen saturation and increased pulse rate of the nursing staff.
9.Study of MR diffusion tensor imaging to monitor the damage degree of optic nerve in non?arteritic anterior ischemic optic neuropathy
Pengde GUO ; Pengbo ZHAO ; Jing ZHAO ; Yan SU ; Ming LIU ; Yunxiang CHEN ; Weixin WANG ; Yan WANG ; Haiqin HUA ; Shaohong KANG ; Lingling CAI ; Ting ZHANG
Chinese Journal of Radiology 2018;52(10):761-765
Objective To study the feasibility and value of magnetic resonance diffusion tensor imaging (DTI) to monitor non?arteritic anterior ischemic optic neuropathy (NAION). Methods Thirty eight NAION patients (56 eyes) were divided into acute period in 17 eyes, progressive period in 16 eyes and chronic period in 23 eyes at the base of onset time. According to matching principle, 56 eyes in 38 normal controls (NCs) were enrolled. All the patients and NCs underwent MR and DTI scan. The raw data were processed by two experienced radiologists, mean diffusivity (MD), axial diffusivities (λ//), radial diffusivities (λ┴), fractional anisotropy (FA) and Length value were got. The independent sample t test was used for the parameter values between the NAION group and the NCs group. A single factor variance analysis was used to compare the parameters among different stages of NAION group. Results Compared to the NCs group, the values of FA and Length in NAION group were reduced [0.20±0.11 vs 0.31±0.12, (5.85±0.92) vs (65.11± 6.89) mm], and the differences were statistically significant (t=-4.28,-5.25;P<0.05). The values of MD andλ┴were increased [(0.16±0.04)×10-3 vs (0.10±0.04)×10-3 mm2/s, (0.16±0.05)×10-3 vs (0.09±0.03)×10-3 mm2/s] in NAION group and the differences were statistically significant (t=6.83, 7.10;P<0.05). The value of FA and Length in acute period, progressive period and chronic period of the NAION group decreased differently compared to the NCs group. At the same time, the value of MD value and λ┴in the three periods of the NAION group increased compared to the NCs groupand the differences were statistically significant (P<0.05). The value of FA between the acute period, the progressive period, and the chronic period of NAION group were statistically signficant (F=10.88, P<0.05). However, no significant differences were found in the values of MD, λ┴and Length of the NAION group (F=0.23, 0.64, 0.33, 1.38;P=0.79, 0.54, 0.72, 0.27). Conclusion The parameters of DTI can be used to monitor the damage of optic nerve and development in NAION.
10.Microwave ablation for selective feticide in complicated monochorionic twin pregnancies
Pengbo YUAN ; Xueju WANG ; Xiaoyue GUO ; Ying WANG ; Yuan WEI
Chinese Journal of Perinatal Medicine 2017;20(10):733-738
Objective To evaluate the feasibility,safety and short-term fetal outcome of ultrasoundguided percutaneous microwave ablation for selective feticide in complicated monochorionic twin pregnancies.Methods Twenty-two patients who underwent microwave ablation for selective fetal reduction in Peking University Third Hospital between July 2015 and June 2016 were retrospectively studied.Surgical complications,fetal outcomes and neural development at age of 60 days were recorded.One-way ANOVA,Mann-Whitney U test,Chi-square or Fisher's exact test was used for statistical analysis.Results Indications of the 22 patients for selective feticide included five cases of twin pregnancy with one anomalous fetus,five cases of severe twintwin transfusion syndrome (TTTS),three cases of twin reserved arterial perfusion (TRAP) and nine cases of selective intrauterine growth restriction (sIUGR).All surgeries were successful under regional anesthesia.Four pregnancies (18.2%,4/22) ended in miscarriage following surgery,three of which were caused by intrauterine fetal death (13.6%,3/22) and one by premature rupture of membranes before 26 weeks of gestation (4.5%,1/22).Totally,18 babies were born alive at an average gestational age of (35.5 4.2) weeks (26~40 weeks+2) and with an average birth weight of (2 380.778) g (800~3 430 g),and four of them were preterm infants less than 32 weeks of gestation.Except for one extremely low birth weight infant,whose gestational age was 26 weeks at birth and birth weight was 800 g,died two days after birth,17 infants were discharged alive,giving an neonatal survival rate of 17/18.The total fetal survival rate was 77.3% (17/22).Polyhydramnios,placenta location,and position of the fetus being aborted showed no significant effect on miscarriage or fetal survival rate (all P>0.05).No severe maternal complications occurred.No brain injuries were detected by imaging examination in 17 infants who were followed up to 60 days of age.Conclusions Ultrasound-guided percutaneous microwave ablation can be used for selective feticide in complicated monochorionic twin pregnancies.Further studies are needed to evaluate its effects on long-term fetal outcome.

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