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1.
Article in Chinese | WPRIM | ID: wpr-922034

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with mental retardation.@*METHODS@#G-banded karyotyping analysis and single nucleotide polymorphism microarray (SNP array) were used to detect the genetic variants within the family, and the origin of the variants was analyzed using UPDtool Statistics software.@*RESULTS@#The patient, a 26-year-old female, was found to have a chromosomal karyotype of 46,XX,dup(4)(q28.2q31.3),and SNP array revealed a 25.71 Mb duplication at 4q28.2-q31.3. The duplication was inherited from her father, and her fetus was found to carry the same duplication.@*CONCLUSION@#The duplication of the patient probably underlay the mental retardation. The gender of the carrier and parental origin of the duplication might have led to the variation in their clinical phenotype.


Subject(s)
Adult , Chromosome Banding , Female , Genetic Testing , Humans , Karyotyping , Male , Pedigree , Trisomy/genetics
2.
Article in Chinese | WPRIM | ID: wpr-921953

ABSTRACT

OBJECTIVE@#To explore the clinical feature and gene variant for two cases of primary male infertility caused by severe asthenospermia and to analyze the etiology of the disease.@*METHODS@#Genomic DNA of peripheral blood samples of patients and their parents was extracted and gene variant analysis of the patients was conducted by using whole exome sequencing. Suspected pathogenic variant was verified by Sanger sequencing and pathogenic analysis.@*RESULTS@#Whole exome sequencing showed that the DNAH1 gene of patient 1 had two heterozygous variants of c.2016T>G(p.Y672X) and c.6017T>G (p.V2006G). The DNAH1 gene of patient 2 had a homozygous variant of c.2610G>A(p.W870X), which were inherited from his father and mother, respectively. According to American College of Medical Genetics and Genomics standards and guidelines, the c.2016T>G (p.Y672X) and c.2610G>A (p.W870X) varaints of DNAH1 gene were predicted to be pathogenic (PVS1+PM2+PM3+PP3).@*CONCLUSION@#The two patients of multiple morphological abnormalities of the sperm flagella may be caused by DNAH1 gene variant, which has resulted in primary male infertility.


Subject(s)
Dyneins/genetics , Genomics , Humans , Infertility, Male/genetics , Male , Mutation , Sperm Tail/pathology , Whole Exome Sequencing
3.
Article in Chinese | WPRIM | ID: wpr-921904

ABSTRACT

OBJECTIVE@#To explore clinical effect of arthroscopic meniscus tear strapping suture by rotator cuff suture threader.@*METHODS@#Forty patients with meniscus tear injury admitted from July 2015 to May 2019, including 27 males and 13 females, aged from 20 to 55 years old with an average of (36.0±1.4) years old. Menisci laceration was sutured with rotator cuff suture thread under arthroscopy. Postoperative complication was observed, Lysholm knee joint score before and after operation at 12 months were used to evaluate clinical effects, visual analogue scale (VAS) and range of knee flexion and extension were applied to evaluate recovery of pain and function.@*RESULTS@#All patients were followed up from 12 to 15 months with an average of (12.6±0.7) months.No complication such as joint effusion, suture failure occurred. Two patients occurred mild pain after activity without clinical physical abnormality, and 1 patient manifested moderate pain with joint space tenderness, the other rest without abnormal. Lysholm knee joint score was increased from (49.55±1.21) preoperatively to (98.95±0.42) at 12 months after operation, VAS score decreased from (5.18±0.78)preoperatively to (1.03±0.77) at 12 months after operation, and range of knee joint flexion and extension activity increased from (50.63±9.20)°preoperatively to (130.38±4.99)°after operation, and there were statistical differences in Lysholm knee joint score, VAS and range of knee joint flexion and extension activity (@*CONCLUSION@#Arthroscopic strapping suture by rotator cuff suture threading device applies to most meniscus injuries, including medial meniscus posterior horn tears, lateral meniscus body tears and lateral meniscus posterior horn tears. This technique meets the need of full-internal meniscus suture without specialmeniscus suture, and has advantages of convenient operation, less complications and good postoperative function.


Subject(s)
Adult , Arthroscopy , Female , Humans , Male , Menisci, Tibial/surgery , Middle Aged , Rotator Cuff , Rotator Cuff Injuries/surgery , Suture Techniques , Sutures/adverse effects , Tibial Meniscus Injuries/surgery , Treatment Outcome , Young Adult
4.
Chinese Journal of Digestion ; (12): 561-567, 2021.
Article in Chinese | WPRIM | ID: wpr-912212

ABSTRACT

Objective:To investigate the expression at protein level and diagnostic value of histone acetyltransferase MYST2 in pancreatic cancer.Methods:From December 1st, 2017 to June 30th, 2020, at Peking Union Medical College Hospital, a total of 54 cases of pancreatic cancer tissues and corresponding paracancerous pancreatic tissues (>5 cm from the surgical margin) resected and confirmed by pathology were collected. ASPC1 and BXPC3 pancreatic cancer cell lines were knocked down (ASPC1 and BXPC3 knockdown group), CFPAC1 and SW1990 pancreatic cancer cell lines were overexpressed (CFPAC1 and SW1990 overexpression group), the untreated ASPC1, BXPC3, CFPAC1 and SW1990 were set as blank vector control group. The expression at protein level of MYST2 was detected by Western blotting in patients with different degrees of pathological differentiation, human normal pancreatic duct epithelial cell line HPDE, human pancreatic cancer cell lines ASPC1, BXPC3, CFPAC1 and SW1990, knockdown group, overexpression group and blank vector control group. The cell proliferation, migration, invasion and colony formation ability of the knockdown group, overexpression group and blank vector control group were determined by real-time cellular analysis, Transwell migration and invasion test, and plate colony formation assay. MYST2 immunohistochemical scoring was performed on pancreatic cancer tissues and para cancer tissues. Receiver operating characteristic curve was drawn to analyze the value of different MYST2 protein expression levels in the diagnosis of pancreatic cancer. Independent sample t test and variance analysis were used for statistical analysis. Results:Among the pathological slides of 54 cases of pancreatic cancer, 13 cases were highly differentiated, 24 cases were moderately differentiated, 15 cases were poorly differentiated and 2 cases were undifferentiated, the MYST2 expression at protein level in pancreatic cancer cells was 3.12±1.67, 2.87±1.59, 2.12±1.03 and 1.08±0.34, respectively, and the difference was statistically significant ( F=1.241, P<0.05). The MYST2 expression levels of ASPC1, BXPC3, CFPAC1 and SW1990 were all higher than that of normal pancreatic ductal epithelial cell lines HPDE (1.41±0.47, 1.40±0.93, 1.13±0.62 and 1.71±0.46 vs. 0.82±0.25), and the differences were statistically significant( t=1.625, 1.577, 1.319 and 1.832, all P<0.05). The MYST2 expression level of BXPC3 knockdown group was lower than that of BXPC3 blank vector control group (0.39±0.12 vs. 0.75±0.34); that of ASPC1 knockdown group was lower than that of ASPC1 blank vector control group (0.43±0.22 vs. 0.82±0.48); that of CFPAC1 overexpression group was higher than that of CFPAC1 blank vector control group (1.38±0.45 vs. 0.82±0.37); that of SW1990 overexpression group was higher than that of SW1990 blank vector control group (1.34±0.65 vs. 0.51±0.22), and the differences were statistically significant ( t=1.414, 1.378, 1.319 and 1.934, all P<0.05). The cell proliferation of ASPC1 knockdown group was slower than that of ASPC1 blank vector control group, and the proliferation peak at 80 h was lower than that of blank vector control group (1.02±0.77 vs. 4.31±2.45); the cell proliferation of BXPC3 knockdown group was slower than that of BXPC3 blank vector control group, and the proliferation peak at 80 h was lower than that of blank vector control group (0.91±0.24 vs. 2.84±0.53); the proliferation of pancreatic cancer cells in SW1990 overexpression group was faster than that of SW1990 blank vector control group, and the proliferation peak at 80 h was higher than that of blank vector control group (3.10±0.67 vs. 1.04±0.17); the proliferation of pancreatic cancer cells in CFPAC1 overexpression group was faster than that that of CFPAC1 blank vector control group, and the proliferation peak at 80 h was higher than that of blank vector control group (5.45±1.13 vs. 1.01±0.29), and the differences were statistically significant ( t=1.427, 1.316, 1.292 and 1.501, all P<0.05). In the test of migration ability, the number of cells passed through the Transwell chamber of ASPC1 knockdown group was less than that of ASPC1 blank vector control group (34.08±17.62 vs. 118.76±5.31); that of BXPC3 knockdown group was less than that of BXPC3 blank vector control group (18.62±9.64 vs. 57.90±12.67); that of SW1990 overexpression group was more than that of SW1990 blank vector control group (134.84±24.65 vs. 37.82±6.73); that of CFPAC1 overexpression group was more than that of CFPAC1 blank vector control group (65.79±27.46 vs. 11.68±5.13), and the differences were statistically significant ( t=1.475, 1.322, 1.437 and 1.219, all P<0.05). In the test of invasion ability, the number of cells passed through the Transwell chamber of ASPC1 knockdown group was less than that of ASPC1 blank vector control group (9.79±5.75 vs. 45.76±12.71); that of BXPC3 knockdown group was less than that of BXPC3 blank vector control group (23.46±11.13 vs. 84.92±17.65); that of SW1990 overexpression group was more than that of SW1990 blank vector control group (156.42±34.50 vs. 42.13±22.17); that of CFPAC1 overexpression group was more than that of CFPAC1 blank vector control group (112.64±47.82 vs. 39.09±17.23), and the differences were statistically significant ( t=1.324, 1.635, 1.423 and 1.119, all P<0.05). The number of colony formation of the ASPC1 knockdown group was less than that of ASPC1 blank vector control group (13.15±6.42 vs. 86.79±35.17); that of BXPC3 knockdown group was less than that of BXPC3 blank vector control group (14.93±9.30 vs. 52.93±15.76); that of SW1990 overexpression group was more than that of SW1990 blank vector control group (129.10±57.31 vs. 62.42±37.43); that of CFPAC1 overexpression group was more than that of CFPAC1 blank vector control group (157.98±66.45 vs. 74.35±34.69), and the differences were statistically significant ( t=1.148, 1.290, 1.274 and 1.462, all P<0.05). The MYST2 score of pancreatic cancer tissues was higher than that of adjacent paracancerous pancreatic tissues (3.04±2.23 vs. 1.32 ± 0.70), and the difference was statistically significant ( t=3.479, P<0.05). When the total immunohistochemistry score of MYST2 was 3 point, the area under the curve was the largest (0.888, 95% confidence interval 0.827 to 0.948), and the Youden index was 0.56. Conclusion:MYST2 is associated with the proliferation, invasion and migration of pancreatic cancer cells, and promotes the development of pancreatic cancer.

5.
Article in Chinese | WPRIM | ID: wpr-911938

ABSTRACT

Objective:To explore the accuracy of array comparative genomic hybridization(aCGH) in the unexpected detection of Duchenne muscular dystrophy ( DMD) gene duplication/deletion in prenatal diagnosis. Methods:A retrospective analysis was performed on 31 cases with DMD gene duplication/deletion detected by aCGH among 5 025 prenatal diagnosis samples without family history of DMD in Henan Provincial People's Hospital from July 2018 to December 2019. The multiplex ligation-dependent probe amplification (MLPA) method was used to verify the above results. The American College of Medical Genetics and Genomics (ACMG) guideline was referred for pathogenicity analysis of the detected duplicates/deletions. Descriptive analysis was adopted in analysis. Results:The total unexpected DMD gene duplication/deletion rate was 0.62% (31/5 025), among which 25 cases were with microduplication/microdeletion ≤ 200 kb and six were >200 kb; there were 24 cases of deletion, seven cases of duplication; exon or intron duplication/deletion were accounted for 19 and 12 cases, respectively. According to the five classification standards of ACMG guideline, there were 17 cases with pathogenic variants and 14 cases with uncertain pathogenicity/likely benign variants. Of the 19 with exon mutations, 17 cases were DMD intragenic variants, and two cases involved variants in and outside DMD gene, which were verified by MLPA whose results were all positive. Conclusions:The duplication/deletion of exon region of DMD gene detected by aCGH technique is accurate and reliable, which plays an important role in the diagnosis of DMD. For these cases involved both internal and external regions of DMD gene, aCGH can identify the upstream and downstream breaking points of DMD gene, thus providing the basis for ACMG grading.

6.
Article in Chinese | WPRIM | ID: wpr-911472

ABSTRACT

Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm (MPN) featured by clonal proliferation of platelets, thrombosis and hemorrhage. Portal hypertension is a serious complication of ET associated with poor prognosis. We report a patient with ET complicated with acute upper gastrointestinal hemorrhage and intestinal perforation due to portal hypertension. She had an uneventful recovery after surgical and endoscopic treatment.

7.
Article in Chinese | WPRIM | ID: wpr-908806

ABSTRACT

Objective:To explore the clinical characteristics and predictors of severe acute pancreatitis complicated with acute respiratory distress syndrome (SAP-ARDS).Methods:Clinical data of consecutive 313 SAP patients hospitalized from January 2000 to January 2020 in Peking Union Medical College Hospital, were retrospectively analyzed, including 258 cases with ARDS (ARDS group) and 55 cases without ARDS (non-ARDS group). According to the severity of ARDS, ARDS group were further divided into mild ARDS group (165 cases) and moderate to severe ARDS group (93 cases). Clinical symptoms, laboratory examination and imaging results, ICU admission time and clinical outcome, as well as the local and systemic complications, acute physiology and chronic health evaluation (APACHEⅡ) within 24 h after admission, bedside index for severity in acute pancreatitis (BISAP), CT severity index (CTSI), sequential organ failure assessment (SOFA) and quick sequenctial organ failure assessment(qSOFA) score were recorded. Univariate and multivariate logistic regression were performed to analyze independent risk factors of SAP complicated with moderate to severe ARDS. Receiver operating characteristics curves (ROC) was drawn to calculate area under the ROC curve (area under curve, AUC) and evaluate the performance of WBC and hsCRP in predicting SAP complicated with moderate to severe ARDS, and assess the performance of APACHEⅡ, BISAP, CTSI, SOFA and qSOFA scores in predicting SAP-ARDS endotracheal intubation.Results:The ICU length of stay and mortality rate of SAP-ARDS patients were significantly higher than those without ARDS [(8.3±11.6 day vs 5.7±7.7 day, 12.4% vs 3.6%, all P value <0.05)]. Univariate analysis showed that elevated WBC ( OR 4.52, 95% CI 1.64-12.4) and hsCRP ( OR 3.69, 95% CI 1.29-10.48) on admission were independent risk factors for moderate to severe ARDS with SAP. The AUC of WBC and hsCRP for predicting SAP with moderate to severe ARDS at admission were 0.651(95% CI 0.532-0.770) and 0.615 (95% CI 0.500-0.730), respectively. The predicted cut-off values (Cut-off values) were 17.5×10 9/L and 159 mg/L, respectively, and the sensitivity was 53.1% and 78.1%, the specificity was 78.1% and 48.4% respectively. The area under the ROC curve for APACHEⅡ, BISAP, CTSI, SOFA, and qSOFA score 24 h after admission in the early prediction of endotracheal intubation were 0.739 (95% CI 0.626-0.840), 0.705 (95% CI 0.602-0.809), 0.753 (95% CI 0.650-0.849 ), 0.737 (95% CI 0.615-0.836) and 0.663 (95% CI 0.570-0.794), and the optimum Cut-off values were 14 points, 3 points, 5 points, 7 points, 2 points, and the sensitivity and specificity for these predictors were 58.8% and 81.4%, 79.4% and 60.0%, 73.5% and 67.1%, 38.2% and 98.6%, 45.5% and 83.3%, respectively. Conclusions::Elevated blood WBC and hsCRP on admission were independent risk factors for moderate to severe ARDS in SAP. APACHEⅡ≥14, BISAP≥3, CTSI≥5, SOFA≥7, or qSOFA≥2 within the 24 h admission indictaed that the risk of SAP patients to receive endotracheal intubation was high.

8.
Article in Chinese | WPRIM | ID: wpr-905266

ABSTRACT

Objective:To solve the issue regarding a low correlation between visual and haptic feedback provided by the current upper-limb rehabilitation training system, this study was implemented based on the end-effector based upper-limb rehabilitation robot developed in the lab. A novel visual and haptic feedback fusion technology based on force tracking was investigated and its effect on upper-limb training was also studied. Methods:Based on the force model constructed in a virtual environment, two types of haptic feedbacks correlated to the visual feedback were designed, including the repulsive force when two objects getting close and the friction force when the object moving above medium surfaces. The haptic feedback constructed in the virtual environment was delivered to the trainees by using force tracking based on robot controlling algorithm. Eight health subjects were recruited and trained with and without feedback fusion. In the training process, the actual and expected haptic feedbacks as well as the surface electromyography (EMG) signals from anterior deltoid, posterior deltoid, biceps, and triceps were collected. The root means square error (RMSE) between the actual and expected haptic feedback was calculated under the feedback fusion training mode to characterize the force tracking-based multi-sensory feedback fusion technology. The integrated EMG values (iEMG) and EMG amplitudes per unit time (EMG/T) under two training modes were measured to explore the effect of feedback fusion technology on the upper-limb motor training. Results:Under feedback fusion training mode, the RMSE between actual and expected haptic feedback was (0.757±0.171) N. The values of iEMG from four muscles were significantly higher (|t| > 7.965, P < 0.001), and the values of EMG/T from the biceps, triceps and anterior deltoid were significantly larger under feedback fusion training mode than under the training mode without feedback fusion. Conclusion:The proposed upper-limb rehabilitation robot training system could accurately transmit the haptic feedback constructed under the virtual environment to the trainees. This system could increase the stimulation to trainees' peripheral nervous function through visual and haptic feedback fusion as well as increase the trainees' training effort. The advantages of force tracking-based visual and haptic feedback fusion technology are to freely construct the force model under the virtual environment and the haptic feedback mode is not constrained by the spatial position. Moreover, two or more types of force models can be superimposed in the same spatial position by using this technology that could improve the matching effect between haptic feedback and visual feedback under a virtual environment. The trainees' motor rehabilitation interest could be stimulated and the experience feeling of human-robot interaction could also be enhanced.

9.
Article in English | WPRIM | ID: wpr-903855

ABSTRACT

Haemonchosis remains a significant problem in small ruminants. In this study, the assay of recombinase polymerase amplification (RPA) combined with the lateral flow strip (LFS-RPA) was established for the rapid detection of Haemonchus contortus in goat feces. The assay used primers and a probe targeting a specific sequence in the ITS-2 gene. We compared the performance of the LFS-RPA assay to a PCR assay. The LFS-RPA had a detection limit of 10 fg DNA, which was 10 times less compared to the lowest detection limit obtained by PCR. Out of 24 goat fecal samples, LFS-RPA assay detected H. contortus DNA with 95.8% sensitivity, compared to PCR, 79.1% sensitivity. LFS-RPA assay did not detect DNA from other related helminth species and demonstrated an adequate tolerance to inhibitors present in the goat feces. Taken together, our results suggest that LFS-RPA assay had a high diagnostic accuracy for the rapid detection of H. contortus and merits further evaluation.

10.
Article in English | WPRIM | ID: wpr-896151

ABSTRACT

Haemonchosis remains a significant problem in small ruminants. In this study, the assay of recombinase polymerase amplification (RPA) combined with the lateral flow strip (LFS-RPA) was established for the rapid detection of Haemonchus contortus in goat feces. The assay used primers and a probe targeting a specific sequence in the ITS-2 gene. We compared the performance of the LFS-RPA assay to a PCR assay. The LFS-RPA had a detection limit of 10 fg DNA, which was 10 times less compared to the lowest detection limit obtained by PCR. Out of 24 goat fecal samples, LFS-RPA assay detected H. contortus DNA with 95.8% sensitivity, compared to PCR, 79.1% sensitivity. LFS-RPA assay did not detect DNA from other related helminth species and demonstrated an adequate tolerance to inhibitors present in the goat feces. Taken together, our results suggest that LFS-RPA assay had a high diagnostic accuracy for the rapid detection of H. contortus and merits further evaluation.

11.
Journal of Experimental Hematology ; (6): 1360-1364, 2021.
Article in Chinese | WPRIM | ID: wpr-888567

ABSTRACT

The incidence of hematological malignant tumor is increasing year by year, and seriously affecting the human health. In addition to the traditional radiation and chemotherapy, immunotherapy has achieved a certain effect in the treatment of blood tumor, but it is limited by exhaustion of CD8


Subject(s)
CD8-Positive T-Lymphocytes , Galectins , Hematologic Neoplasms , Hepatitis A Virus Cellular Receptor 2 , Humans , Immunotherapy
12.
Journal of Clinical Hepatology ; (12): 233-236, 2021.
Article in Chinese | WPRIM | ID: wpr-862578

ABSTRACT

Acute respiratory distress syndrome (ARDS) is a common complication of severe acute pancreatitis (SAP) and a leading cause of early death in SAP patients, but its pathogenesis is still unclear. In recent years, the role of gut microbiota and its metabolites in regulating SAP-related ARDS has attracted more and more attention, and in-depth studies on the pathogenesis of “intestine-lung axis” may provide new ideas for the research and development of drugs for SAP-related ARDS. This article summarizes the recent research advances in gut microbiota and its metabolites in SAP-related ARDS.

13.
Article in Chinese | WPRIM | ID: wpr-877656

ABSTRACT

This paper analyzes the development necessity of a series of international technical specification of acupuncture-moxibustion from three aspects, the development status of global


Subject(s)
Acupuncture , Acupuncture Points , Acupuncture Therapy , Internationality , Moxibustion , Reference Standards
14.
Article in Chinese | WPRIM | ID: wpr-877636

ABSTRACT

To sort out the existing problems within the published 35 evidence-based acupuncture-moxibustion clinical practice guidelines (group standards) in Chinese: the development methods and the development process are not clear and strict enough; the evidence evaluation system fails to fully reflect the characteristics of acupuncture and moxibustion. Therefore,


Subject(s)
Acupuncture , Acupuncture Therapy , China , Evidence-Based Practice , Moxibustion
16.
Article in Chinese | WPRIM | ID: wpr-887508

ABSTRACT

To provide directional suggestions for the establishment of international clinical practice guidelines for acupuncture and moxibustion by investigating the current situation of clinical practice guidelines for acupuncture and moxibustion at home and abroad. The clinical practice guidelines were obtained by questionnaire survey, database retrieval and experts consulting. The guidelines were read carefully, and the content was analyzed. A total of 27 acupuncture-moxibustion clinical practice guidelines were retrieved, of which most of the guidelines came from China. The definition and scope of "acupuncture and moxibustion "vary according to different guidelines; and the focus of the content and the method of establishing the guidelines are quite different, so it is very necessary to unify the formulation methods of acupuncture-moxibustion clinical practice guidelines. Chinese clinical practice guidelines for acupuncture and moxibustion were characterized by taking the ancient literature as the evidence. Excavating the value of ancient literature and clinical experience of acupuncture-moxibustion experts are the key points and difficulties in the developing of clinical practice guidelines of acupuncture and moxibustion in the future.


Subject(s)
Acupuncture , Acupuncture Therapy , China , Humans , Moxibustion , Surveys and Questionnaires
17.
Article in Chinese | WPRIM | ID: wpr-885711

ABSTRACT

Objective:To explore the preoperative diagnostic value of endoscopic ultrasonography (EUS) for intraductal papillary mucinous neoplasms (IPMN).Methods:Data of 62 patients with IPMN confirmed by pathology who underwent EUS before surgery from 2008 to 2018 in Peking Union Medical College Hospital were analyzed. Characteristics that could distinguish low-grade dysplasia (LGD), high-grade dysplasia (HGD) and invasive carcinoma (IC) were explored. A scoring system based on EUS findings was established to determine the preoperative pathology of IPMN by using logistic model.Results:Of the 62 patients, 15 (24.2%) were diagnosed as having LGD, 20 (32.3%) HGD and 27 (43.5%) IC. Univariate analysis showed that the size of mural nodules and width of main pancreatic duct (MPD) were predictive factors for IPMN pathology. The possibility of higher pathological grading would increase 8% for every 1 mm increment in mural nodules. Multivariate analysis showed that only mural nodules≥5 mm ( OR=7.31, 95% CI : 2.49-21.40, P<0.001) was an independent risk factor to distinguish LGD, HGD and IC. Mural nodules≥5 mm, main pancreatic duct (MPD)≥10 mm and mural nodules <5 mm were assigned 2 points, 1 point and 1 point, respectively. The sensitivity, specificity, and area under receiver operator characteristic curve (AUC) of the EUS scoring system to distinguish benign and malignant IPMN were 0.830, 0.867, and 0.867, respectively. Conclusion:Preoperative EUS helps to distinguish LGD, HGD and IC. The size of mural nodules and the width of MPD are vital risk factors to distinguish benign and malignant IPMN.

18.
Chinese Journal of Nephrology ; (12): 168-175, 2021.
Article in Chinese | WPRIM | ID: wpr-885491

ABSTRACT

Objective:To summarize the diagnosis features of the prenatal genetic diagnosis of fetal renal cystic disease and to explore the clinical feasibility and significance of prenatal genetic diagnosis of congenital cystic nephrosis.Methods:A total of 25 fetuses with congenital renal cystic disease were examined via invasive prenatal diagnosis in Henan Provincial People's Hospital from June 2017 to September 2019. Amniotic fluid samples were extracted by amniocentesis. Chromosomal microarray analysis (CMA) were performed in 17 cases. In addition to CMA, the other 8 cases were analyzed by G-band karyotype. Whole exome sequencing (WES) was performed in 6 cases which got normal results by CMA and karyotype, and highly suspected as hereditary disease.Results:Of the 25 fetuses assessed, 4 cases (16.0%) pathogenic copy number variation (pCNV) were found, including 2 cases of 17q12 deletion, 1 case of 10p15.1p14 deletion and 1 case of 4q21.28q22.1 deletion(including PKD2 gene). There were 8 cases without chromosome abnormality by karyotype analysis. Six clinical WES analysis found NPHS1 gene c.1440+1 G>A and c.925G > T mutations were related to Finnish type congenital nephrotic syndrome in 1 case, PKD1 gene c.6878C>T mutation was related to autosomal dominant polycystic kidney disease (ADPKD) in 1 case, and there was no definitive mutation in 4 cases. Conclusions:CMA and next generation sequencing are powerful tools for accurate diagnosis, treatment and genetic counseling of fetal congenital renal cystic diseases. For congenital cystic nephropathy, genetic detection is helpful to clarify the etiology, and provide more exactly informations for prognosis evaluation, treatment and family genetic counseling.

19.
Article in Chinese | WPRIM | ID: wpr-885143

ABSTRACT

Objective:To determine the clinical features and genetic characters of patients with chronic enteropathy associated SLCO2A1 gene (CEAS). Methods:Five CEAS patients diagnosed at Peking Union Medical College Hospital from January 2012 to December 2019 were enrolled in this study. The clinical manifestations, laboratory test, radiological and endoscopic findings, gene detections, treatments and prognosis of these patients were reviewed and analyzed.Results:Five male patients presented gastrointestinal symptoms after puberty, including abdominal pain, diarrhea, intermittent melena or hematochezia, incomplete bowel obstruction, anemia, hypoalbuminemia and hypokalemia. The whole gastrointestinal tract except esophagus could be involved, especially the stomach and ileum. Intestinal lesions were characterized by multiple shallow ulcers with stenosis in the layers of mucosa and submucosa. Five patients were all accompanied with primary hypertrophic osteoarthropathy (PHO), and 1 with myelofibrosis and thoracic duct dysplasia. All patients were homozygous or compound heterozygous mutations of SLCO2A1 gene. Conventional treatment of inflammatory bowel disease and COX-2 inhibitors were ineffective. Conclusions:CEAS is an autosomal recessive genetic disease which widely involves the gastrointestinal tract, and can be associated with skin and bone involvement. There is no effective treatment for CEAS at present. CEAS is a different entity from other inflammatory gastrointestinal diseases.

20.
Chinese Journal of Orthopaedics ; (12): 176-185, 2021.
Article in Chinese | WPRIM | ID: wpr-884702

ABSTRACT

Objective:To develop a set of algorithms that could predict the precise size of acetabular cup preoperatively by the deep learning neural network technology.Methods:Retrospective analysis was performed on 30 patients with femoral head necrosis from April 2019 to April 2020, including 15 males and 15 females. At the age of (54.8±10.5) years (range 33-72 years). Thirteen hips on the left and seventeen hips on the right, who underwent primary unilateral THA. Based on the manually segmented hip joint CT database, a deep learning convolutional neural network was trained to realize automatic segmentation. A customized algorithm was created to fit the surface of the acetabulum. By the application of another deep learning convolutional neural network, the identification of anatomical points of the pelvis and correction of the pelvic position were realized. So that the placement of the acetabulum cup could be done. DOC (dice overlap coefficients) as well as the average error parameter were adopted to evaluate the accuracy of the above steps. The novel algorithm and Orthoview software were retrospectively used to template the acetabular cup separately. The results of both groups were compared with the actual size and the coincidence rate was calculated to evaluate the accuracy of the novel algorithm. To verify this algorithm, the conformance rate was calculated respectively.Results:Compared with other classical segmentation networks, the G-NET network can segment the pelvic with femoral head necrosis more accurately (DOC 92.51%± 6.70%). It also has better robustness. The average error of the point recognition network is 0.87 pixels. Among the 30 patients, the AI-based algorithm group had a complete coincidence rate of 96.7% and the Orthoview group had a complete coincidence rate of 73.3%. The difference was statistically significant ( χ2=6.405, P=0.011). Conclusion:The artificial intelligence-based algorithm can segment the CT image series and identify the feature points of the patient's hip accurately. Compared with the conventional 2D preoperative planning method, the AI-based algorithm is relatively more accurate. This artificial intelligence-based 3D preoperative software has promising prospect to makeaccurate surgical plan efficiently.

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